[{"id":"ka0SJ000000cicjYAA","title":"Which rare diseases are included in GARD?","bodyText":"GARD utilizes selection criteria to decide which rare diseases are included on the website. Criteria are based on the availability of published and curated research information from a variety of sources. As research continues and the understanding and information about rare diseases evolves, GARD will update its webpages to reflect these changes. Some rare diseases may not be represented by a webpage on GARD due to the limited availability of research information, or source information may not yet be available in GARD's database.    

To provide information for as many diseases as quickly as possible, GARD's webpages are populated with information in bulk, rather than one disease page at a time. Though not all diseases are currently featured on GARD's website, our list of rare diseases can be downloaded here: GARD Rare Disease List Jun2026.csv

If you are unable to find information on the disease you are looking for, contact one of our Information Specialists for help. 

The information provided on this website reflects GARD's commitment to its role as a public health resource. Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH and are not regulatory statements of the U.S. Food and Drug Administration (U.S. FDA). Learn more about rare diseases at U.S. FDA.","tab":"About","section":"Policies","subSection":"InformationHow","allPages":false,"displayTitle":true,"order":3,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000cijBYAQ","title":"¿Qué enfermedades raras están incluidas en GARD?","bodyText":"GARD emplea criterios de selección para determinar qué enfermedades raras se incluyen en su sitio web. Estos criterios se fundamentan en la disponibilidad de información de investigación publicada y curada, proveniente de diversas fuentes. A medida que avanza la investigación y se incrementa el conocimiento sobre las enfermedades raras, GARD actualizará sus páginas web para reflejar dichos avances. Es posible que algunas enfermedades raras no estén representadas en el sitio web de GARD debido a la limitada disponibilidad de información de investigación, o porque la información de las fuentes aún no se encuentra en la base de datos de GARD.

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Con el fin de proporcionar información sobre la mayor cantidad posible de enfermedades de manera eficiente, las páginas web de GARD se actualizan con información de forma masiva, en lugar de agregarla una enfermedad a la vez. Aunque no todas las enfermedades están actualmente disponibles en el sitio web de GARD, nuestra lista de enfermedades raras se puede descargar aquí: Lista de Enfermedades Raras de GARD junio2026.csv 

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Si no puede encontrar información sobre la enfermedad que está buscando, comuníquese con uno de nuestros Especialistas en Información para obtener ayuda.

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La información proporcionada en este sitio web refleja el compromiso de GARD con su rol como recurso de salud pública. Las enfermedades raras presentadas en GARD no deben considerarse como declaraciones de política de NCATS o del NIH, ni como declaraciones regulatorias de la Administración de Alimentos y Medicamentos de los EE. UU. (U.S. FDA). Obtenga más información sobre enfermedades raras en la FDA de los EE. UU [en inglés].  

","tab":"About","section":"Policies","subSection":"InformationHow","allPages":false,"displayTitle":true,"order":3,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XKhVYAW","title":"How do you find retina specialists?","bodyText":"Retina specialists are eye doctors with advanced training in diagnosing and treating diseases of the retina. They focus on identifying and managing diseases such as inherited retinal diseases, macular degeneration, diabetic eye disease, and retinal inflammation. These specialists may have experience treating rare or complex retinal diseases and can help if you have unexplained vision loss, distorted vision, or are at risk for a genetic retinal disease. Retina specialists may prove particularly important when diseases are progressive, rare, or difficult to manage with standard care.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Use this directory by the American Society of Retina Specialists to search for a retina specialist in your area.","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000t4mRPYAY","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Retinal"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000ZRyDYAW","title":"Where can you find pediatric multidisciplinary care centers?","bodyText":"Children’s hospitals and large teaching hospitals may also offer dedicated specialists and programs for pediatric patients with undiagnosed or rare diseases. These programs bring pediatric experts together in one place and may provide more coordinated care for your child.

Search for children's or university hospitals in your area. ","tab":"Diagnosis","section":"CareCenters","subSection":"Pediatrics","allPages":false,"displayTitle":false,"order":2,"images":[],"tags":["Pediatrics"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XLC9YAO","title":"How do you find vascular medicine specialists?","bodyText":"Vascular medicine specialists are doctors with expertise in diagnosing and managing diseases that affect the blood vessels, including arteries, veins, and lymphatic vessels. They focus on managing rare or complex vascular diseases such as vasculitis, genetic diseases that affect blood vessel formation, or deep vein thrombosis in unusual locations.

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Some vascular medicine doctors specialize in non-surgical treatments and may coordinate care with vascular surgeons or interventional radiologists. They may use blood tests, imaging studies like ultrasounds or MRIs, and genetic testing to evaluate vascular problems.

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If you or your family members have symptoms like unexplained blood clots, skin ulcers, or fainting episodes, you may benefit from seeing a vascular medicine specialist.                          

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You may want to consider bringing a copy of your family medical history and any previous test results to your appointment. Ask your PCP for a referral, or use this directory by the Society for Vascular Surgery to find a vascular medicine specialist in your area. 

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000t4qJoYAI","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Vascular Medicine"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000UkgXYAS","title":"Encuentre apoyo","bodyText":"Explore una amplia gama de recursos, desde cómo acceder a asistencia financiera hasta herramientas para comunicarse eficazmente con su proveedor de atención médica. 
 ","tab":"Home","section":"GARDServices","subSection":"FindResources","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000CYEbvAAH","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XG4PYAW","title":"Find Support","bodyText":"Discover everything from where to find financial aid to tools that help you communicate with your health care provider.
","tab":"Home","section":"GARDServices","subSection":"FindResources","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000CYEbvAAH","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XH5JYAW","title":"How do you find seizure and epilepsy specialists (epileptologist)?","bodyText":"Epileptologists are neurologists with advanced training in diagnosing and treating epilepsy and seizure disorders. They specialize in evaluating complex or drug-resistant forms of epilepsy, including rare types that may involve multiple seizure types or be linked to genetic or metabolic disorders. Epileptologists may use tools such as electroencephalogram (EEG), brain imaging, and genetic testing to help guide treatment.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory by Medicare to search for an epileptologist in your area. Search using the keyword “epilepsy.\"","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000t4ohrYAA","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Epilepsy"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XH6vYAG","title":"How do you find neuro-ophthalmology specialists?","bodyText":"Neuro-ophthalmologists are doctors with advanced training in both neurology and ophthalmology. They focus on diagnosing and treating vision problems that stem from nervous system conditions, such as optic nerve disorders, eye movement abnormalities, or visual effects of brain injuries or diseases.

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A neuro-ophthalmologist may be helpful in identifying and diagnosing rare diseases affecting vision and the brain. They often use imaging studies, visual field testing, or bloodwork to evaluate underlying neurological causes.   You may want to consider bringing a copy of medical records from previous eye exams and neurological tests to your appointment. 

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Ask your PCP for a referral, or use this directory by the North American Neuro-Ophthalmology Society to search for a neuro-ophthalmologist in your area.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000t54rNYAQ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Neuro-Ophthalmology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XQGfYAO","title":"How do you find anterior segment eye specialists?","bodyText":"Anterior segment specialists are eye doctors with advanced training in diseases that affect the front part of the eye, such as the cornea, iris, and lens. They manage a variety of eye diseases, from common issues like cataracts to complex, rare, or genetic diseases that involve the anterior segment. Anterior segment specialists may perform surgeries or other treatments to improve vision and eye health.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Use this directory by the American Academy of Ophthalmology to search for an anterior segment specialist in your area. Use the dropdown menu to select \"Cataract/Anterior Segment\". ","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":false,"images":[{"url":"069SJ00000t0MfNYAU","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Anterior segment of Eye"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XKftYAG","title":"How do you find clinical cardiac electrophysiology specialists?","bodyText":"Clinical cardiac electrophysiologists are heart doctors with advanced training in diseases that affect the heart’s electrical system. They focus on identifying and managing diseases that involve irregular or abnormal heartbeats, such as atrial fibrillation and supraventricular tachycardia. These specialists may have experience treating complex or rare genetic arrhythmias, and can help if you have unexplained fainting, palpitations, or a family history of sudden cardiac death.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Use this directory by Medicare to search for a clinical cardiac electrophysiology specialist in your area. Search using the term “clinical cardiac electrophysiology.”","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000t1XOwYAM","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Clinical Cardiac Electrophysiology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000VMx7YAG","title":"How do you find vascular neurologists?","bodyText":"Vascular neurologists are doctors with advanced training in diseases that affect the blood vessels in the brain and spinal cord. They focus on identifying and managing cerebrovascular diseases such as stroke, transient ischemic attack, brain aneurysms, blood vessel malformations, and narrowing or inflammation of the arteries that supply the brain. These specialists may have experience treating rare or genetic vascular diseases and are especially important for people who have had a stroke, are at risk for stroke, or have unexplained symptoms that may be related to blood flow in the brain.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Use this directory by the American Board of Psychiatry and Neurology to search for a vascular neurologist in your area. Use the dropdown menu to select “Vascular Neurology”. ","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000t4m05YAA","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Vascular Neurology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XPndYAG","title":"How do you find congenital heart disease specialists?","bodyText":"Congenital heart disease (CHD) specialists are cardiologists with advanced training in managing heart diseases present from birth. They focus on identifying and addressing health issues that can develop or change over time. These specialists may have experience managing rare or complex heart diseases and can help if you have a known congenital heart defect, new or unexplained heart symptoms, or a family history of congenital heart disease.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Use this directory by Medicare to search for a CHD specialist in your area. Search using the term “congenital heart disease”.","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000t49OhYAI","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Congenital Heart Disease"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000Te5JYAS","title":"Comuníquese con GARD","bodyText":"Los Especialistas en Información de GARD brindan ayuda individualizada para conectarle con información y recursos. Nuestros Especialistas en Información pueden ayudarle:\n\nImportante: GARD proporciona información sobre enfermedades raras para su conocimiento general y no reemplaza el consejo de un médico.
","tab":"Home","section":"ContactUs","subSection":"ContactUsOverview","allPages":false,"displayTitle":true,"order":1,"images":[{"url":"069SJ00000lWJ9dYAG","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XDkrYAG","title":"Connect with GARD","bodyText":"GARD Information Specialists offer individualized help to connect you with information and resources. Our Information Specialists can help you:\n\nImportant: GARD provides information about rare diseases for your general knowledge and is not a substitute for the advice of a health care provider.","tab":"Home","section":"ContactUs","subSection":"ContactUsOverview","allPages":false,"displayTitle":true,"order":1,"images":[{"url":"069SJ00000lWJ9dYAG","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000VOIzYAO","title":"How do you find gynecologic cancer specialists (gynecologic oncologists)?","bodyText":"Gynecologic oncologists are specialists with advanced training in diagnosing and treating cancers of the female reproductive system. They focus on identifying and managing health issues related to gynecologic cancers, including complex or aggressive cancers. These specialists may have experience treating rare tumors or cancers with genetic links and can help if you have abnormal bleeding, a suspicious pelvic mass, or a family history of gynecologic cancers.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Use this directory by the Foundation for Women’s Cancer to search for a gynecologic oncologist in your area. ","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000t0OuUYAU","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Rare gynecological tumor"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XH3hYAG","title":"How do you find neurodevelopmental disability specialists?","bodyText":"Neurodevelopmental disability specialists are doctors with advanced training in evaluating and managing conditions that affect brain development, behavior, and function. These specialists often care for individuals with intellectual disabilities, developmental delays, genetic syndromes, or neurological conditions that manifest early in life. They may have more experience with rare or complex neurodevelopmental diseases that are difficult to diagnose and manage, especially those with genetic or hereditary components.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory by Medicare to search for a neurodevelopmental disability specialist in your area. Search using the keywords “neurodevelopmental disabilities.”","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000t594bYAA","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XH25YAG","title":"How do you find sleep medicine specialists?","bodyText":"Sleep medicine specialists are physicians trained to diagnose and treat conditions that affect sleep health, including those that can interfere with cognitive function, physical health, and overall quality of life. Sleep medicine is a subspecialty open to providers from various backgrounds such as neurology, internal medicine, psychiatry, anesthesiology, and family medicine. These specialists may evaluate symptoms like excessive daytime sleepiness, difficulty falling or staying asleep, unusual movements during sleep, or abnormal breathing patterns. They often manage both common and rare sleep disorders such as narcolepsy, idiopathic hypersomnia, circadian rhythm disorders, and parasomnias and many of which have neurologic origins and can be challenging to diagnose.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory by Medicare to search for a sleep medicine specialist in your area. Search using the keywords “sleep medicine.”","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000t4h3jYAA","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XH0TYAW","title":"How do you find neuromuscular specialists?","bodyText":"Neuromuscular specialists are doctors with advanced training in diagnosing and managing conditions that affect the peripheral nervous system, including the muscles, nerves, and neuromuscular junctions. They often evaluate complex symptoms like muscle weakness, numbness, or coordination issues. These specialists may have more experience with rare and inherited neuromuscular diseases that are harder to diagnose and treat, such as genetic neuropathies, muscular dystrophies, motor neuron diseases like amyotrophic lateral sclerosis (ALS) or hereditary spastic paraplegias.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory by Medicare to search for a neuromuscular specialist in your area. Search using the keywords “neuromuscular medicine.”","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000t4ysNYAQ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000bZDJYA2","title":"How do you find maternal-fetal medicine specialists (pregnancy-related)?","bodyText":"Maternal-fetal medicine specialists are obstetricians with advanced training in managing high-risk pregnancies. They focus on identifying and addressing health issues that could affect the mother, fetus, or both during pregnancy. These specialists may have experience managing rare or complicated pregnancy conditions related to genetic diseases, birth defects, infections, or chronic illnesses like diabetes or hypertension. Maternal-fetal medicine specialists may perform detailed ultrasounds, genetic testing, or other diagnostic procedures.

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You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

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Ask your PCP for a referral, or use this directory by Medicare to search for a maternal-fetal medicine specialist in your area. Search using the keywords “maternal and fetal medicine.”

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000t47oIYAQ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Obstetrics / Gynecology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XDjFYAW","title":"What does symptom frequency mean?","bodyText":"Frequency refers to how often patients with this disease may have this symptom. The scale ranges from occasionally seen in patients to seen in every patient.","tab":"About","section":"Symptoms","allPages":true,"displayTitle":false,"order":3,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XDhdYAG","title":"How Can GARD Help You?","bodyText":"Finding accurate information and helpful resources may prove challenging during your diagnostic journey. GARD provides access to information and resources that are current, reliable, and clear. Using the support GARD offers can help ensure you are getting the best possible care for your rare disease.

Here, learn what kind of information and resources GARD offers.","tab":"Home","section":"GARDServices","subSection":"Intro","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000N58fYAC","title":"¿Cómo puede GARD ayudarle?","bodyText":"Encontrar información precisa y recursos útiles puede resultar desafiante durante el proceso de diagnóstico. GARD brinda acceso a información y recursos actuales, confiables y claros. Utilizar el respaldo que GARD ofrece puede contribuir a asegurar que reciba la mejor atención posible para su enfermedad rara.

Descubra aquí qué tipo de información y recursos ofrece GARD.","tab":"Home","section":"GARDServices","subSection":"Intro","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000NbZxYAK","title":"¿Cómo puede localizar a especialistas en hormonas (endocrinólogos)?","bodyText":"Los endocrinólogos son médicos especializados en el diagnóstico y tratamiento de enfermedades relacionadas con las hormonas. Las hormonas son mensajeros químicos que regulan y coordinan múltiples funciones del organismo, entre ellas el metabolismo, el crecimiento y la reproducción. Estos especialistas atienden con frecuencia afecciones como la diabetes, los trastornos tiroideos y ciertos tipos de cáncer vinculados a desequilibrios hormonales. Asimismo, brindan atención a personas con alteraciones en el crecimiento o en el desarrollo sexual. Las opciones terapéuticas pueden incluir medicamentos, terapia de reemplazo hormonal o intervenciones quirúrgicas, dependiendo de la naturaleza y complejidad de la enfermedad.

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Se recomienda llevar a la consulta una copia de su historial médico, así como una lista actualizada de los medicamentos que esté tomando.

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Consulte con su médico de atención primaria para obtener una referencia, o utilice el directorio [en inglés] proporcionado por la Endocrine Society para localizar un especialista.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbhWAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Endocrine"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XPpFYAW","title":"How do you find hormone specialists (endocrinologists)?","bodyText":"Endocrinologists are doctors trained to diagnose and manage diseases related to hormones. Hormones are chemical messengers that help coordinate many body functions, including metabolism, growth, and reproduction. Endocrinologists commonly treat conditions such as diabetes, thyroid disorders, and certain hormone-related cancers. They also care for people with concerns about growth or sexual development. Treatment options may include medications, hormone replacement therapy, or surgery, depending on the condition.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the Endocrine Society to find a specialist.","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbhWAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Endocrine"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000cOxNYAU","title":"LastUpdateDate","bodyText":"Last Updated: June 2026","tab":"All","section":"LastUpdate","allPages":true,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000ZJuDYAW","title":"How can you find a rare disease expert?","bodyText":"If a diagnosis, care management, or treatment plan remains unclear despite extensive efforts by your PCP and specialists, it may be time to find a rare disease expert for your disease, if available. A rare disease expert is a medical provider that has knowledge or training on specific rare disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals, sometimes called centers of excellence. Centers of Excellence commit to sharing knowledge and best practices that can lead to improved care and treatment for individuals living with a rare disease. 

You can also contact a GARD Information Specialist for help finding experts, centers of excellence, or clinics that focus on your disease.","tab":"Diagnosis","section":"FindingExpert","subSection":"Parent","allPages":true,"displayTitle":true,"images":[{"url":"069t000000QZCXbAAP","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XGQzYAO","title":"Why may you want to consider joining the All of Us Research Program?","bodyText":"The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.","tab":"About","section":"Research","subSection":"ClinicalStudyReferences","allPages":true,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000MDTFYA4","title":"¿Qué pautas utiliza GARD al enlazar con sitios web no gubernamentales?","bodyText":"El sitio web de GARD está construido con información de salud de alta calidad que es fácil de entender.\n
GARD enlaza con sitios web no gubernamentales si cumplen con un conjunto estándar de criterios. El personal utiliza esta lista como guía para determinar si un recurso se incluirá en el sitio web de GARD.     
GARD mantiene un conjunto separado de criterios para las organizaciones de pacientes.
\n
Recursos en GARD\n\n\n
Publicidad en Sitios Web\n\n\n
Disponibilidad y Mantenimiento del Sitio Web\n\n\n
Vídeos
Además de los criterios para los sitios web mencionados anteriormente, los videos deben cumplir con estas pautas:\n\n\nPrivacidad del Usuario\n\n","tab":"About","section":"Policies","subSection":"Download","allPages":false,"displayTitle":true,"order":7,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XGu1YAG","title":"What guidelines does GARD use when linking to non-governmental websites?","bodyText":"

GARD's website is built with high-quality health information that is easy to understand.

\n\n

GARD links to non-governmental websites if they meet a standard set of criteria. Staff use this list as a guide to determine if a resource will be included on GARD's website. GARD maintains a separate set of criteria for patient organizations. 

Resources on GARD

\n\n\nWebsite Advertising\n\n\nWebsite Availability and Maintenance\n\n\nVideos\n\n

In addition to the criteria for websites listed above, videos should meet these guidelines:

\n\n\nUser Privacy\n\n","tab":"About","section":"Policies","subSection":"Download","allPages":false,"displayTitle":true,"order":7,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000MDOPYA4","title":"Datos puntuales","bodyText":"GARD recopila información de bases de datos mundiales para ofrecerle los datos y hechos más actualizados sobre las enfermedades raras.","tab":"About","section":"GARDEfforts","subSection":"RoutineUpdates","allPages":false,"displayTitle":true,"order":4,"images":[{"url":"0693d00000CpVCKAA3","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XGsPYAW","title":"How does GARD provide timely data?","bodyText":"GARD gathers information from global databases to provide you with the most up-to-date facts and figures about rare diseases.","tab":"About","section":"GARDEfforts","subSection":"RoutineUpdates","allPages":false,"displayTitle":true,"order":4,"images":[{"url":"0693d00000CpVCKAA3","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000MDLBYA4","title":"Mejorando el acceso a la información de enfermedades raras","bodyText":"En GARD trabajamos para abordar los retos de la salud pública que afronta la comunidad de enfermedades raras al cambiar la forma en que se comparte la información. Recopilamos información de diferentes bases de datos de investigación para crear un resumen simplificado de las causas conocidas, recursos de diagnóstico e información sobre dónde puede encontrar una comunidad de apoyo. Al convertir los datos en hechos fáciles de entender para su uso, trabajamos para mejorar el acceso a la información sobre las enfermedades raras.

A continuación, identificamos algunas de las formas en las que GARD le ayuda a navegar por la información sobre enfermedades raras.","tab":"About","section":"GARDEfforts","subSection":"Intro","allPages":false,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XGqnYAG","title":"How is GARD improving access to rare disease information?","bodyText":"At GARD, we work to address the public health challenges facing the rare disease community by changing how information is shared. We gather information from different research databases to create a simplified summary of known causes, diagnostic resources, and information on where you may find a community of support. By turning the data into easy-to-understand facts for you to use, we work to improve access to rare disease information.

Here we identify a few of the ways GARD helps you navigate through information on rare diseases.","tab":"About","section":"GARDEfforts","subSection":"Intro","allPages":false,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000MDHxYAO","title":"La misión de GARD","bodyText":"En el Centro de Información sobre Enfermedades Raras y Genéticas (GARD), nuestra misión es apoyar a las personas que viven con una enfermedad rara y a sus familias proporcionando acceso gratuito a información confiable y fácil de entender en inglés y en español. Mejorar el acceso a la información sobre enfermedades raras permitirá que GARD entregue investigaciones y recursos actualizados a más personas de manera rápida.

Establecido por la Ley de Enfermedades Raras de 2002 [en inglés], GARD es un recurso de salud pública gestionado por el Centro Nacional para el Avance de las Ciencias Traslacionales (NCATS), como parte de los Institutos Nacionales de la Salud (NIH) y la agencia del gobierno federal responsable de la investigación biomédica en los Estados Unidos. El Instituto Nacional de Investigación del Genoma Humano (NHGRI) [en inglés]  de los NIH también aporta fondos al programa GARD. GARD hace hincapié en la ciencia transnacional, o el campo de la ciencia dedicado a convertir observaciones en laboratorios, clínicas y la comunidad en innovaciones para mejorar la salud pública. Obtenga más información sobre NCATS y la ciencia transnacional [en inglés].

No hay publicidad en este sitio web y GARD no respalda ni promociona ninguna empresa, producto o servicio.","tab":"About","section":"GARDDescription","allPages":false,"displayTitle":true,"images":[{"url":"069t000000RsC9YAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XGpBYAW","title":"What is GARD’s mission?","bodyText":"At the Genetic and Rare Diseases (GARD) Information Center, our mission is to support people living with a rare disease and their families by providing free access to reliable, easy-to-understand information in English and Spanish. Improving access to information on rare diseases will help GARD deliver the most up-to-date research and resources to more people faster.

Established by the Rare Diseases Act of 2002, GARD is a public health resource managed by the National Center for Advancing Translational Sciences (NCATS), a part of the National Institutes of Health (NIH), the federal government agency responsible for biomedical research in the United States. The National Human Genome Research Institute (NHGRI) with NIH also contributes funds to the GARD program. GARD emphasizes translational science, or the field of science dedicated to turning observations in laboratories, clinics, and the community into innovations to improve public health. Learn more about NCATS and translational science. 

There is no advertising on this website, and GARD does not endorse or promote any companies, products, or services.
","tab":"About","section":"GARDDescription","allPages":false,"displayTitle":true,"images":[{"url":"069t000000RsC9YAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000bMj7YAE","title":"¿Qué debe saber sobre GARD?","bodyText":"GARD es un programa de los Institutos Nacionales de la Salud que proporciona acceso gratuito a información confiable y fácil de entender sobre enfermedades genéticas y raras .","tab":"About","section":"Header","allPages":false,"displayTitle":true,"order":1,"images":[{"url":"0693d00000A6wONAAZ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000A6wONAAZ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000AOvAWAA1","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XGlxYAG","title":"What should you know about GARD?","bodyText":"GARD is a program of the National Institutes of Health that provides free access to reliable, easy-to-understand information about genetic and rare diseases.
","tab":"About","section":"Header","allPages":false,"displayTitle":true,"order":1,"images":[{"url":"0693d00000A6wONAAZ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000A6wONAAZ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000AOvAWAA1","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XGnZYAW","title":"What is the Genetic and Rare Diseases Information Center?","bodyText":"Progress in data science and an increased understanding of disease genetics lead experts to agree that more than an estimated 10,000 rare diseases affect millions of people in the United States. Each disease may be rare individually, but people with rare diseases often face similar challenges. These challenges may include accessing information, getting a diagnosis, and finding resources.

The mission of the Genetic and Rare Diseases (GARD) Information Center is to help the rare disease community meet these common challenges. We do this by providing free access to reliable and easy-to-understand information. We support the rare disease community both through our website and through the dedicated Information Specialists in our Contact Center.","tab":"Home","section":"AboutGARD","subSection":"TranslatingScience","allPages":false,"displayTitle":true,"order":1,"images":[{"url":"069t000000QZ4xrAAD","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000cfq9YAA","title":"¿Qué es el Centro de Información sobre Enfermedades Genéticas y Raras?","bodyText":"Los avances en la ciencia de datos y una mejor comprensión de la genética de las enfermedades han llevado a los expertos a concluir que existen más de 10,000 enfermedades raras que afectan a millones de personas en los Estados Unidos. Aunque cada enfermedad es poco común por sí sola, las personas que viven con enfermedades raras suelen enfrentar desafíos similares. Estos desafíos pueden incluir encontrar información, obtener un diagnóstico y acceder a recursos y apoyo.

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La misión del Centro de Información sobre Enfermedades Genéticas y Raras, es ayudar a la comunidad de enfermedades raras a enfrentar estos desafíos comunes. Lo hacemos proporcionando acceso gratuito a información confiable y fácil de entender. Apoyamos a la comunidad de enfermedades raras a través de nuestro sitio web y de los Especialistas en Información de nuestro Centro de Contacto, quienes están dedicados a brindar orientación y apoyo.

","tab":"Home","section":"AboutGARD","subSection":"TranslatingScience","allPages":false,"displayTitle":true,"order":1,"images":[{"url":"069t000000QZ4xrAAD","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000MCybYAG","title":"¿Qué información puede esperar encontrar en GARD?","bodyText":"La información en el sitio web de GARD se recopila y selecciona a partir de numerosas bases de datos de investigación. Estos datos se obtienen comúnmente de la literatura médica que informa sobre personas con la enfermedad y de investigaciones relacionadas con la misma. Sin embargo, puede haber muy pocas personas con una enfermedad rara específica que busquen atención médica o reciban un diagnóstico. En tales casos, puede conocerse poca información sobre la enfermedad, y las secciones en el sitio web de GARD pueden estar ausentes o incompletas.

Cuando hay información limitada disponible, GARD aún puede brindarle ayuda. Cuando las personas nos contactan con preocupaciones de salud complejas, a menudo sugerimos que consideren contactar a médicos en una universidad grande o en un centro académico de salud. Estos centros suelen contar con la última tecnología y tratamientos. Los proveedores de atención médica en universidades y centros académicos de salud a menudo trabajan en conjunto para diagnosticar y tratar a los pacientes; también pueden contar con médicos que participan en ensayos clínicos.

Es común que una persona afectada por una enfermedad rara o una condición de salud compleja busque tratamientos e investigaciones disponibles en todo el mundo. El asesoramiento sobre el tratamiento o cuidado de un paciente debe obtenerse mediante consulta con un médico que haya examinado a ese paciente y esté familiarizado con su historial médico. Aunque GARD no puede ofrecer asesoramiento médico y no está directamente involucrado en la atención al paciente o la investigación, nuestro objetivo es conectarlo con recursos útiles. Por favor, contacte a GARD para obtener asistencia adicional.","tab":"About","section":"Policies","subSection":"MissingIncomlete","allPages":false,"displayTitle":true,"order":5,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XGxFYAW","title":"What information can you expect to find on GARD?","bodyText":"The information on the GARD website is collected and curated from many research databases. This data is commonly obtained from medical literature that reports on people with the disease and research involving the disease. However, there may be too few people with a specific rare disease that seek medical care or receive a diagnosis. In such cases, little information may be known about the disease, and sections on the GARD website may be missing or incomplete.

When there is limited information available, GARD can still help you. When people contact us with complex health concerns, we often first suggest they consider contacting doctors at a larger university or academic health center. These centers tend to have the latest technology and treatments. Healthcare providers at universities and academic health centers often work together with others to diagnose and treat patients; they may also have doctors who are involved in clinical trials.

It is common for a person affected with a rare disease or a complex health disease to search worldwide for available treatments and research. Advice on the treatment or care of a patient should be obtained through consultation with a physician who has examined that patient and is familiar with that patient's medical history. Though GARD cannot offer medical advice and is not directly involved in patient care or research, we aim to connect you with helpful resources. Please contact GARD for additional assistance.","tab":"About","section":"Policies","subSection":"MissingIncomlete","allPages":false,"displayTitle":true,"order":5,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XLAXYA4","title":"¿De dónde obtiene información GARD?","bodyText":"GARD recopila datos de diversas fuentes con el propósito de actualizar su sitio web y brindar información precisa y confiable sobre las enfermedades raras. Tenga en cuenta que todos los enlaces siguientes le llevarán a un sitio web en inglés.

GARD utiliza datos recopilados de Orphanet,  Online Mendelian Inheritance in Man (OMIM) [Herencia Mendeliana en el Hombre en línea] y Mondo Disease Ontology [Ontología de Enfermedades Mondo] para interpretar y proporcionar información sobre enfermedades raras. Esto incluye nombres, sinónimos, genes, frecuencia de síntomas, estimaciones de población y más.

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GARD utiliza la Human Phenotype Ontology (HPO) [Ontología de Fenotipos Humanos] para la terminología estándar que representa las características fenotípicas y clínicas de una enfermedad.

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GARD utiliza la información recopilada de MedGen del Centro Nacional para la Información Biotecnológica para ayudar a explicar las enfermedades genéticas y raras.

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GARD utiliza la Biblioteca Nacional de Medicina de los Estados Unidos para diversos recursos de información sobre la salud.

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GARD utiliza recursos adicionales para elaborar su contenido.

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","tab":"About","section":"Policies","subSection":"InformationWhere","allPages":false,"displayTitle":true,"order":4,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XL8vYAG","title":"Where does GARD get information?","bodyText":"

GARD collects data from a variety of sources to populate its website and provide accurate and reliable information on rare diseases. 

GARD uses data collected from Orphanet,  Online Mendelian Inheritance in Man (OMIM) , and Mondo Disease Ontology to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.

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GARD uses the Human Phenotype Ontology (HPO)  for standard terminology to represent a disease's phenotypic and clinical features. 

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GARD uses information gathered from the National Center for Biotechnology Information's MedGen to help in explaining genetic and rare diseases.

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GARD uses the National Library of Medicine for a variety of resources on health information.

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GARD uses additional resources when developing content. 

\n","tab":"About","section":"Policies","subSection":"InformationWhere","allPages":false,"displayTitle":true,"order":4,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XL7JYAW","title":"Where does GARD get information for its website?","bodyText":"

GARD collects data from a variety of sources to populate its website and provide accurate and reliable information on rare diseases. 

GARD uses data collected from Orphanet,  Online Mendelian Inheritance in Man (OMIM) , and Mondo Disease Ontology  to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.

\n\n

GARD uses the Human Phenotype Ontology (HPO)  for standard terminology to represent a disease's phenotypic and clinical features. 

\n\n

GARD uses information gathered from the National Center for Biotechnology Information's MedGen to help in explaining genetic and rare diseases.

\n\n

GARD uses the National Library of Medicine for a variety of resources on health information.

\n\n

GARD uses additional resources when developing content. 

\n","tab":"All","section":"AllReferences","allPages":true,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000aLXNYA2","title":"¿Qué es una enfermedad rara?","bodyText":"Una enfermedad rara es aquella que afecta a menos de 200,000 personas en los Estados Unidos (según la Ley de Enfermedades Raras de 2002). Los avances en la ciencia de datos y una mayor comprensión de la genética de las enfermedades han llevado a los expertos a coincidir en que existen más de 10,000 enfermedades raras que afectan a millones de personas en los Estados Unidos.1  

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La mayoría de las enfermedades raras representan riesgos graves para la salud; con frecuencia ponen en peligro la vida y provocan afecciones de gran impacto. La mayoría de estas enfermedades afectan a niños. A pesar del creciente conocimiento científico sobre sus causas y su evolución, menos del 5% de las enfermedades raras cuenta con tratamientos aprobados.

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1¿Cuántas enfermedades raras hay? (en inglés)

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","tab":"About","section":"Policies","allPages":false,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000aNSjYAM","title":"What is a rare disease?","bodyText":"
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A rare disease is a disease affecting fewer than 200,000 individuals in the United States (per the Rare Diseases Act of 2002). Progress in data science and an increased understanding of disease genetics lead experts to agree that more than an estimated 10,000 rare diseases are affecting millions of people in the United States.1 

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Most rare diseases pose serious health risks, often threatening lives and causing major illness. The majority of rare diseases impact children. Despite growing scientific knowledge about the causes and progression of rare diseases, fewer than 5% have approved treatments. 

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1How many rare diseases are there?

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","tab":"About","section":"Policies","allPages":false,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000MBjBYAW","title":"What causes disruption in metabolism?","bodyText":"${DiseaseName} is caused by a disruption in a person's metabolism. Metabolism is the series of chemical reactions in our body that turns the food we eat into energy and removes toxins. Hormones and specific proteins, called enzymes, help make the right chemical reactions happen in the right order. However, genetic changes can prevent hormones or enzymes from working properly, which can lead to a disruption in metabolism such as energy not being created for the body or toxins not being removed from the body. Learn more about inherited metabolic diseases from the National Human Genome Research Institute (NHGRI).","tab":"About","section":"Causes","subSection":"CauseExplanation","allPages":false,"displayTitle":true,"order":9,"images":[{"url":"0693d00000BgWIzAAN","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Inborn Errors of Metabolism"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000VT0vYAG","title":"What is mitochondrial DNA and how is it inherited?","bodyText":"Mitochondrial inheritance means the genetic mutation is located in a specific type of DNA, called mtDNA. mtDNA is found within the cell's mitochondria. Mitochondria are tiny structures that produce energy for the body. Genetic mutations within mtDNA can prevent the mitochondria from working properly.

During human conception, egg cells, or the cells that come from the female parent, provide mitochondria. If a female parent is affected by a mitochondrial genetic mutation, there is a 100% chance their child inherits the mutated gene. However, the child may or may not be affected by the disease. A male parent cannot pass mitochondrial genetic mutations to their children.

Learn more about inheritance patterns from the National Library of Medicine (NLM).","tab":"About","section":"Causes","subSection":"Transmission","subSubsection":"Mitochondrial","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000BiNwaAAF","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Mitochondrial inheritance"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000VT2XYAW","title":"What are Y-linked traits and how are they inherited?","bodyText":"Y-linked inheritance means the genetic mutation is located on the Y chromosome, one of the sex chromosomes. The male sex chromosome pair consists of one X and one Y chromosome (XY). The female sex chromosome pair consists of two X chromosomes (XX). Because females do not have a Y chromosome, they cannot be affected by Y-linked mutated genes.

If a male parent is affected by a Y-linked mutated gene, there is a 100% chance their male child inherits the mutation and is affected by the disease. However, there is a 0% chance their female child inherits the mutated gene.

Learn more about inheritance patterns from the National Library of Medicine (NLM).","tab":"About","section":"Causes","subSection":"Transmission","subSubsection":"YLinked","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000BiMqiAAF","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Y-linked"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000VTCDYA4","title":"Can diseases be passed down from parent to child?","bodyText":"A biological parent can sometimes pass down genetic changes, called mutations, that cause a disease or increase the chances of developing it. This is called inheritance. Knowing if other family members have had the disease, also known as your family health history, can give your medical team important information. The Surgeon General offers a tool to help you collect your family health history. ","tab":"About","section":"Causes","subSection":"Transmission","subSubsection":"InheritanceOverview","allPages":false,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000VSmPYAW","title":"What if There Are No Available Clinical Studies?","bodyText":"ResearchMatch helps connect people interested in research studies  with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.","tab":"About","section":"Research","subSection":"ClinicalStudyReferences","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000VTP7YAO","title":"Why Participate in Clinical Studies?","bodyText":"People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.","tab":"About","section":"Research","subSection":"ClinicalStudy","allPages":true,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000M7dxYAC","title":"¿Por qué participar en estudios clínicos?","bodyText":"Las personas participan en ensayos clínicos por diversas razones. Aquellos que padecen una enfermedad pueden decidir participar para acceder al tratamiento más avanzado disponible y recibir atención adicional por parte del personal del estudio clínico, además de contribuir a la mejora de la situación de otros que enfrenten la misma o una enfermedad similar. Por su parte, los voluntarios sanos participan con el objetivo de ayudar a los demás y contribuir al progreso de la ciencia.

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Para encontrar el estudio clínico más adecuado, le recomendamos consultar a sus médicos, a otros profesionales de la salud de confianza y a organizaciones de pacientes. Asimismo, puede utilizar ClinicalTrials.gov para buscar estudios clínicos según la enfermedad, los términos o la ubicación.

","tab":"About","section":"Research","subSection":"ClinicalStudy","allPages":true,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000M7ajYAC","title":"¿Cómo puede cuidar de los demás?","bodyText":"

Como cuidador, puede resultar difícil encontrar el apoyo y los recursos necesarios para brindar atención adecuada a los demás. Los siguientes recursos proporcionan información y herramientas sobre el apoyo en la atención médica a domicilio, la optimización de su hogar para la prestación de cuidados y la creación de una comunidad de apoyo.

Aplicaciones para ayudar a los cuidadores:

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Recursos para el cuidado de los otros:

\n","tab":"LivingWith","section":"CaregiverResources","subSection":"Others","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XLIbYAO","title":"How can you care for others?","bodyText":"

As a caregiver, it may be challenging to find the support and resources you need to provide proper care to others. The following resources provide information and tools on home health care support, optimizing your home for caregiving, and building a community of support.

Apps to assist caregivers:

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Resources for caring for others:

\n","tab":"LivingWith","section":"CaregiverResources","subSection":"Others","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XHRtYAO","title":"How can you address your needs as a caregiver?","bodyText":"As a caregiver, it is important to also care for yourself. You may at times feel overwhelmed or alone, but the following resources may help you find ways to create time for yourself, manage your emotional health, and connect with others.
 \n","tab":"LivingWith","section":"CaregiverResources","subSection":"Yourself","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000M7VtYAK","title":"¿Cómo puede afrontar sus necesidades como cuidador?","bodyText":"Como cuidador, es fundamental cuidar de uno mismo. Es posible que en ocasiones se sienta abrumado o solo, pero los siguientes recursos pueden ayudarle a encontrar maneras de dedicar tiempo a su bienestar personal, controlar su salud emocional y establecer conexiones con otras personas.\n","tab":"LivingWith","section":"CaregiverResources","subSection":"Yourself","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000VQ6HYAW","title":"How can a diagnostic team help?","bodyText":"Building the right diagnostic team is an important early step in your diagnostic journey. Your diagnostic team is the group of providers who are responsible for helping you to get the right diagnosis. Some providers have advanced medical training in different body systems or types of diseases. This training allows them to provide specific diagnostic procedures and care in their area of expertise. Understanding which providers can best support your diagnostic journey can help you build a strong team dedicated to getting you the correct diagnosis.","tab":"Diagnosis","section":"MedTeam","subSection":"Parent","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000BBZmlAAH","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000BBZmlAAH","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":true,"language":"en_US"},{"id":"ka0SJ000000M7E9YAK","title":"¿Cuáles son los criterios que GARD tiene en cuenta al incluir una organización de pacientes en su lista?","bodyText":"GARD define una organización de pacientes como aquella que ayuda a promover las necesidades y prioridades de los pacientes que viven con una enfermedad rara.

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Para ser incluida en el sitio web de GARD, una organización de pacientes debe:

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Si una organización brinda asesoramiento médico o desea que su directorio de expertos o su enlace de registro de investigación se publique en GARD, debe contar con un asesor médico o una junta de revisión médica. Tenga en cuenta que: una organización sin un asesor médico o junta de revisión médica puede ser añadida a GARD, pero no se incluirá ni un enlace del directorio de expertos ni un enlace del registro de investigación de pacientes.

Una organización de pacientes será excluida del sitio web de GARD si:

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¿Cumple su organización con los criterios de inclusión? Solicite agregarla a GARD.

","tab":"About","section":"Policies","allPages":false,"displayTitle":true,"order":6,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000VQZJYA4","title":"What criteria does GARD consider when including a patient organization?","bodyText":"GARD defines a patient organization as one that helps to promote the needs and priorities of patients living with a rare disease.

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To be included on GARD's website, a patient organization must:

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If an organization provides medical advice or would like its expert directory or research registry link published on GARD, there must be a medical advisor or medical advisory/review board. Please note: An organization without a medical advisor or medical review board may be added to GARD, but neither an expert directory link nor a patient research registry link will be included.

A patient organization may be excluded from GARD's website if:

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Does your organization meet the criteria? Request to add it to GARD.

","tab":"About","section":"Policies","allPages":false,"displayTitle":true,"order":6,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000VQavYAG","title":"How can patient organizations help?","bodyText":"Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

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Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Contact a GARD Information Specialist for more information on organizations that may be dedicated to this disease. Please contact an organization directly if you have questions about the information or resources it provides.

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View GARD's criteria for including patient organizations, which can be found under the FAQs on our About GARD page. Request an update or to have your organization added to GARD. 

","tab":"About","section":"PatientOrganizations","subSection":"Parent","allPages":true,"displayTitle":true,"images":[{"url":"0693d000005aHiMAAU","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d000005aHiMAAU","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000VQcXYAW","title":"Where can you find support?","bodyText":"You do not need to navigate life with a rare disease alone. The following organizations can help you find support for various challenges you may face and connect you with others affected by rare diseases.\n\nHelplines\n\n\nMental Health Assistance\n\n\n \n\n","tab":"LivingWith","section":"PatientResources","subSection":"DayToDay","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000M79JYAS","title":"¿Dónde puede obtener apoyo?","bodyText":"No es necesario que usted afronte solo la vida con una enfermedad rara. Las siguientes organizaciones están a su disposición para brindarle apoyo ante los diversos desafíos que puede encontrar y facilitarle la conexión con otras personas afectadas por enfermedades raras.\n\nLíneas de ayuda\n\n\nAsistencia en materia de salud mental\n\n","tab":"LivingWith","section":"PatientResources","subSection":"DayToDay","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XLFNYA4","title":"How can you afford the care you need?","bodyText":"

With or without insurance, the cost of care for rare medical conditions can place a significant financial strain on patients and families. These resources and programs may provide you financial relief.

\n

Grants and Funding

\n\n

Insurance Coverage

\n\n

Medication Cost Assistance

\n","tab":"LivingWith","section":"PatientResources","subSection":"Managing","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000M6UzYAK","title":"¿Cómo puede costear la atención médica que necesita?","bodyText":"

Con o sin seguro, el costo de la atención para condiciones médicas raras puede representar una carga financiera considerable para los pacientes y sus familias. Los siguientes recursos y programas pueden proporcionarle alivio económico.

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Subvenciones y financiamiento

\n\n

Cobertura de Seguro Médico

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Asistencia con el Costo de Medicamentos

\n","tab":"LivingWith","section":"PatientResources","subSection":"Managing","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XTZVYA4","title":"Why is building the right health care team important?","bodyText":"Building the right health care team is key to the diagnosis, treatment, and management of your long-term health journey living with a rare disease. Start by choosing a primary care provider (PCP). Your PCP will be your main point of contact and help coordinate care with other medical professionals. Your PCP may order tests or refer you to specialists. To find a PCP near you, use the Medicare provider search tool and enter your location and “Primary Care Provider.”

\n

Seeing multiple specialists is important for people with rare diseases because these conditions often affect many parts of the body and require care from doctors with different expertise. Most primary care providers may not be familiar with rare diseases, so involving specialists can lead to a more accurate diagnosis and better care. A coordinated team approach ensures that all symptoms are addressed and that care is well-managed. It can also connect patients with the latest research or treatment options.

","tab":"Diagnosis","section":"MedTeam","subSection":"Parent","allPages":true,"displayTitle":true,"images":[{"url":"0693d00000BBZmlAAH","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000BBZmlAAH","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000VOVtYAO","title":"How can you overcome barriers to accessing care?","bodyText":"

Life with a rare disease may present unique challenges to accessing care. The following resources may help you in overcoming these barriers.

Health care services near you:

\n\n

Transportation needs:

\n\n

Disability needs:

\n","tab":"LivingWith","section":"PatientResources","subSection":"Financial","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000M5dlYAC","title":"¿Cómo puede superar las dificultades para acceder a la atención médica?","bodyText":"

La vida con una enfermedad rara puede presentar desafíos particulares a la hora de acceder a la atención médica. Los siguientes recursos pueden ser de gran ayuda para superar estas dificultades.

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Servicios de salud cerca de usted:

\n\n

Necesidades de transporte:

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Necesidades relacionadas con discapacidades:

\n","tab":"LivingWith","section":"PatientResources","subSection":"Financial","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000M5QrYAK","title":"¿Existen formas alternativas de administrar su salud?","bodyText":"El 95% de las enfermedades raras carecen de un tratamiento aprobado por la FDA. Sin embargo, existen alternativas que podrían ayudarle a encontrar opciones de tratamiento para su enfermedad rara. Los siguientes recursos pueden brindarle una mejor comprensión de las opciones disponibles.\n","tab":"LivingWith","section":"InformedDecisions","subSection":"PalliativeHospice","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XQIHYA4","title":"Are there alternative ways to manage your health?","bodyText":"Ninety-five percent of rare diseases lack an FDA-approved treatment. There may be alternatives to seek out treatment options for your rare disease. The following resources may better inform you of what options are available. \n","tab":"LivingWith","section":"InformedDecisions","subSection":"PalliativeHospice","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000VOPRYA4","title":"Where can you find tips for communicating with your provider?","bodyText":"

Open and honest communication with your team of health care providers is critical to the diagnosis, management, and treatment of a rare disease. Knowing which questions to ask, how to prepare for an appointment, and where to turn for support will help you effectively communicate with health care providers.

Appointment Preparation

\n\n

 Effective Communication

\n\n

Care Coordination

\n","tab":"LivingWith","section":"InformedDecisions","subSection":"TransitioningCare","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000NbDNYA0","title":"¿Dónde puede encontrar consejos para comunicarse con su proveedor de atención médica?","bodyText":"

La comunicación abierta y honesta con su equipo de proveedores de atención médica es fundamental para el diagnóstico, manejo y tratamiento de una enfermedad rara. Saber qué preguntas hacer, prepararse adecuadamente para una cita y saber dónde buscar apoyo le permitirá comunicarse de manera efectiva con los proveedores de atención médica.

Prepárese para la Consulta

\n\n

 Comunicación efectiva

\n\n

 

\n

Coordinación de la atención

\n","tab":"LivingWith","section":"InformedDecisions","subSection":"TransitioningCare","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000M4jJYAS","title":"¿Qué hacer si tiene una condición no diagnosticada o aún está buscando un diagnóstico?","bodyText":"Apoyo General

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Financiamiento para Pruebas Genéticas en Casos no Diagnosticados

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","tab":"LivingWith","section":"InformedDecisions","subSection":"ComplementaryCare","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XWh3YAG","title":"What if you have an undiagnosed condition or are still searching for a diagnosis?","bodyText":"

General Support

\n\n

Genetic Testing Funding for Undiagnosed Conditions

\n\n","tab":"LivingWith","section":"InformedDecisions","subSection":"ComplementaryCare","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XHDNYA4","title":"How can you find an expert or an expert center?","bodyText":"You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The National Organization for Rare Disorders (NORD) maintains a list of rare disease centers with experts that work together to find treatments and cures for a broad range of rare diseases. Search NORD's Center Directory to find experts near you. ","tab":"Diagnosis","section":"FindingExpert","subSection":"MoreInfo","subSubsection":"Resources","allPages":false,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":true,"language":"en_US"},{"id":"ka0SJ000000ZRwbYAG","title":"Is It Time to Get a Second Opinion or Specialized Evaluation?","bodyText":"If you've visited your PCP, met with specialists, and undergone the recommended tests, but are still searching for a diagnosis, it may be time to visit an academic medical center or, for pediatric patients, a children's hospital. Academic medical centers and children's hospitals, often called multidisciplinary care centers, typically bring together specialists from different fields to work together on complex cases like rare diseases.

\n

Multidisciplinary care centers may offer more coordinated care and be involved in clinical research, which may help reduce the time to diagnosis and provide access to emerging diagnostic tools. Specialists at these centers may have a deeper understanding of rare diseases and serve as a resource when you'd like a second opinion, particularly when test results or treatment plans are not delivering expected results.

\n

Find hospitals that may partner with medical schools and programs in your area. 

","tab":"Diagnosis","section":"CareCenters","subSection":"Parent","allPages":false,"displayTitle":true,"images":[{"url":"069SJ00000Edr4QYAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XHEzYAO","title":"Where can you find rare disease support worldwide?","bodyText":"

Organizations worldwide offer support to the rare disease community, and international patient organizations may help you find local support where you live or travel. For information on country-specific resources dedicated to rare diseases, please contact a GARD Information Specialist. Our Information Specialists can help connect you with organizations that may offer the support and services you are looking for.

\n

 

\n

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

\n

 

\n","tab":"LivingWith","section":"PatientResources","subSection":"International","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000NogrYAC","title":"¿Dónde puede encontrar recursos de apoyo para las enfermedades raras a nivel mundial?","bodyText":"

Las organizaciones a nivel mundial brindan apoyo a la comunidad de enfermedades raras, y las organizaciones internacionales de pacientes pueden ayudarle a encontrar recursos locales, ya sea en su lugar de residencia o donde usted viaje. Para obtener información sobre recursos específicos dedicados a las enfermedades raras de cada país, le invitamos a ponerse en contacto con un Especialista en Información de GARD. Nuestros Especialistas en Información estarán encantados de ayudarle a conectarse con organizaciones que puedan ofrecerle el apoyo y los servicios que necesita.

\n


Tenga en cuenta que GARD proporciona información sobre organizaciones con fines exclusivamente informativos y no como un respaldo a sus servicios. Le recomendamos que se comunique directamente con las organizaciones si tiene preguntas sobre la información o los recursos que ofrecen.

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","tab":"LivingWith","section":"PatientResources","subSection":"International","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XPsTYAW","title":"How do you find gum, teeth and mouth specialists (odontologists)?","bodyText":"Odontology specialists focus on diagnosing, treating, and managing diseases that affect the teeth, gums, and mouth. Specialists known as dentists commonly use imaging studies or clinical examinations to diagnose odontologic diseases.

You may be able to find an odontologist  in your area (directory by the American Dental Association).","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000BT37gAAD","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000BT37gAAD","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Odontology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000NbrhYAC","title":"Odontología","bodyText":"Los especialistas en Odontología se dedican al diagnóstico, tratamiento y manejo de enfermedades que afectan los dientes, las encías y la cavidad bucal. Los profesionales conocidos como dentistas suelen emplear estudios de imágenes y exámenes clínicos para diagnosticar enfermedades odontológicas.

\n

 

\n

Es posible que pueda encontrar un odontólogo [en inglés] , consultando el directorio de la American Dental Association.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000BT37gAAD","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000BT37gAAD","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Odontology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XPvhYAG","title":"How do you find bone and joint specialists (orthopedists or orthopedic surgeons)?","bodyText":"Orthopedists, also known as orthopedic surgeons, are doctors with specialized training in diagnosing and treating conditions that affect the bones, joints, muscles, tendons, and ligaments. They care for people with arthritis, scoliosis, sports injuries, bone fractures, and rare or inherited bone conditions. Orthopedists may use imaging tests and physical exams to identify the cause of pain, stiffness, or limited movement. Treatment may include physical therapy, medication, or surgery.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory by Medicare to search for an orthopedist specialist in your area. Search using the keyword “Orthopedics.”","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"0693d000006F8B6AAK","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Orthopedics"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000Nbq5YAC","title":"¿Cómo puede localizar a especialistas en huesos y articulaciones (ortopedistas o cirujanos ortopédicos)?","bodyText":"Los ortopedistas, también conocidos como cirujanos ortopédicos, son médicos con formación especializada en el diagnóstico y tratamiento de enfermedades y trastornos que afectan los huesos, las articulaciones, los músculos, los tendones y los ligamentos. Brindan atención a personas con artritis, escoliosis, lesiones deportivas, fracturas óseas, así como con enfermedades óseas raras o de origen hereditario. Para determinar la causa del dolor, la rigidez o la limitación en el movimiento, los ortopedistas pueden realizar exámenes físicos y solicitar estudios de diagnóstico por imágenes. El tratamiento puede incluir terapia física, medicación o procedimientos quirúrgicos.

\n

 

\n

Se recomienda acudir a la consulta con una copia de su historial médico y una lista actualizada de los medicamentos que toma.

\n

 

\n

Consulte con su médico de atención primaria para solicitar una remisión, o utilice el directorio de Medicare para localizar un especialista en ortopedia en su zona. Realice la búsqueda utilizando la palabra clave “Orthopedics”.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"0693d000006F8B6AAK","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Orthopedics"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000LbJ7YAK","title":"¿Cómo puede localizar especialistas en el sistema urinario y el aparato reproductor masculino (urólogos)?","bodyText":"Los urólogos son médicos especializados en el diagnóstico y tratamiento de afecciones que afectan el sistema urinario en hombres y mujeres, así como el aparato reproductor masculino. Con frecuencia, atienden infecciones del tracto urinario, cálculos renales, trastornos del control vesical, enfermedades de la próstata y cánceres relacionados con estos órganos. Para diagnosticar y orientar el tratamiento, los urólogos pueden emplear estudios de imagen, pruebas de laboratorio o procedimientos específicos. Algunos se especializan en áreas concretas, como la urología pediátrica o la oncológica.

\n

 

\n

Se recomienda acudir a la consulta con una copia de su historial médico y una lista actualizada de los medicamentos que esté tomando.

\n

 

\n

Consulte con su proveedor de atención primaria para obtener una remisión o utilice el directorio proporcionado por Medicare para buscar un urólogo en su área. Realice la búsqueda utilizando las palabras clave “Urología”.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"0693d000006F80wAAC","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Urologist"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XPxJYAW","title":"How do you find urinary and male reproductive system specialists (urologists)?","bodyText":"Urologists are doctors with specialized training in diagnosing and treating conditions that affect the urinary system in both males and females, as well as the male reproductive system. They often manage urinary tract infections, kidney stones, bladder control issues, prostate conditions, and cancers involving these organs. Urologists use imaging, lab tests, or procedures to diagnose and guide treatment. Some may specialize in specific areas such as pediatric or cancer-related urology.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory by Medicare to search for a urologist in your area. Search using the keywords “Urology.”","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"0693d000006F80wAAC","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Urologist"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XPyvYAG","title":"How do you find lung and breathing specialists (pulmonologists)?","bodyText":"Pulmonologists are doctors with specialized training in diagnosing and treating conditions that affect the lungs and airways. They commonly evaluate people with breathing difficulties, chronic cough, asthma, chronic obstructive pulmonary disease, lung infections, and rare lung diseases. Pulmonologists may use breathing tests, imaging, or sleep studies to understand how the lungs are functioning and guide treatment.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory by Medicare to search for a pulmonologist in your area. Search using the keyword “Pulmonology.”","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtblCAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Pulmonology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000LabZYAS","title":"¿Cómo puede localizar especialistas en pulmones y vías respiratorias (neumólogos)?","bodyText":"Los neumólogos son médicos con formación especializada en el diagnóstico y tratamiento de enfermedades que afectan los pulmones y las vías respiratorias. Con frecuencia, evalúan a pacientes que presentan dificultades respiratorias, tos crónica, asma, enfermedad pulmonar obstructiva crónica, infecciones y patologías pulmonares poco comunes. Para valorar el funcionamiento pulmonar y orientar el tratamiento, los neumólogos pueden emplear pruebas de función respiratoria, estudios de imagen o polisomnografías.

\n

 

\n

Se recomienda llevar a su cita una copia de su historial médico y una lista actualizada de los medicamentos que esté tomando.

\n

 

\n

Consulte con su proveedor de atención primaria para obtener una remisión o utilice este directorio proporcionado por Medicare para buscar un neumólogo en su área. Realice la búsqueda utilizando la palabra clave “Pulmonología”.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtblCAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Pulmonology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000NboTYAS","title":"¿Cómo puede localizar especialistas en riñón (nefrólogos)?","bodyText":"Los nefrólogos son médicos con formación especializada en el diagnóstico y manejo de las enfermedades que afectan a los riñones.
Los riñones contribuyen a regular la presión arterial y a mantener el equilibrio de líquidos y minerales en el organismo. Los nefrólogos atienden habitualmente a pacientes con cálculos renales, infecciones renales, enfermedad renal crónica e insuficiencia renal. Para diagnosticar trastornos renales y evaluar la eficacia de los tratamientos, emplean análisis de sangre, análisis de orina y estudios de imagen. Asimismo, ayudan a manejar el impacto que las enfermedades renales pueden tener en otras partes del cuerpo.

\n

 

\n

Se recomienda llevar a la cita una copia de su historial médico y una lista actualizada de los medicamentos que esté tomando.

\n

 

\n

Consulte con su proveedor de atención primaria para obtener una remisión o utilice este directorio proporcionado por Medicare para buscar un especialista. Realice la búsqueda utilizando las palabras clave “Nefrología”.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbiyAAB","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Nephrology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XQ0XYAW","title":"How do you find kidney specialists (nephrologists)?","bodyText":"Nephrologists are doctors with specialized training in diagnosing and managing conditions that affect the kidneys. The kidneys help control blood pressure and maintain the body’s balance of fluids and minerals. Nephrologists commonly care for people with kidney stones, kidney infections, chronic kidney disease, and kidney failure. They use blood tests, urine tests, and imaging studies to diagnose kidney problems and monitor how well treatments are working. They also help manage how kidney conditions impact other parts of the body.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral, or use this directory provided by Medicare to search for a specialist. Search using the keywords “Nephrology.”","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbiyAAB","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Nephrology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000VP0XYAW","title":"How do you find genetic specialists (geneticists)?","bodyText":"Geneticists are doctors trained to diagnose and manage conditions caused by genetic changes, birth defects, or metabolic disorders. Metabolic disorders affect how the body makes or uses energy. Geneticists often work alongside genetic counselors to review family history, discuss genetic risks, explain testing options, and interpret genetic test results. They help people understand how inherited conditions may affect them and their families.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American College of Medical Genetics and Genomics to find a specialist.","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbhXAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Genetics"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000NblFYAS","title":"¿Cómo puede localizar especialistas en genética (genetistas)?","bodyText":"Los genetistas son médicos especializados en el diagnóstico y manejo de enfermedades ocasionadas por alteraciones genéticas, defectos congénitos o trastornos metabólicos. Los trastornos metabólicos afectan la forma en que el cuerpo produce o utiliza la energía. Los genetistas suelen trabajar en conjunto con asesores genéticos para revisar antecedentes familiares, analizar riesgos genéticos, explicar las opciones de pruebas disponibles e interpretar los resultados de los exámenes genéticos. Ayudan a las personas a comprender cómo las condiciones hereditarias pueden afectarles a ellas y a sus familias.

\n

 

\n

Se recomienda llevar una copia de su historial médico y una lista de los medicamentos que toma a su cita.

\n

 

\n

Consulte con su proveedor de atención primaria para obtener una remisión o utilice este directorio proporcionado por el American College of Medical Genetics and Genomics para encontrar un especialista.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbhXAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Genetics"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000VP29YAG","title":"How do you find skin, hair, and nail specialists (dermatologists)?","bodyText":"Dermatologists are doctors trained to diagnose and treat conditions that affect the skin, hair, and nails. Because the skin can show signs of many health issues, dermatologists often gain important insights by examining it. They commonly treat skin infections, rashes, eczema, hair loss, and skin cancers. To diagnose some conditions, dermatologists may take small skin samples (biopsies) for testing. Treatments can include medications, light therapies such as ultraviolet radiation, and surgery to remove damaged tissue or skin cancers.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American Academy of Dermatology Association to find a specialist.","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000MopWVAAZ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"069t000000MopWVAAZ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Dermatology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000NbjdYAC","title":"¿Cómo puede localizar especialistas en la piel, el cabello y las uñas (dermatólogos)?","bodyText":"Los dermatólogos son médicos especializados en el diagnóstico y tratamiento de afecciones que afectan la piel, el cabello y las uñas. Dado que la piel puede manifestar señales de diversos problemas de salud, los dermatólogos suelen obtener información valiosa a través de su evaluación. Tratan con frecuencia infecciones cutáneas, erupciones, eccema, pérdida de cabello y cánceres de piel. Para diagnosticar determinadas afecciones, pueden tomar pequeñas muestras de piel (biopsias) para su análisis. Los tratamientos pueden incluir medicamentos, terapias con radiación ultravioleta y procedimientos quirúrgicos para extirpar tejido dañado o cánceres cutáneos.

\n

 

\n

Se recomienda llevar a la cita una copia de su historial médico y una lista actualizada de los medicamentos que esté tomando.

\n

 

\n

Consulte con su proveedor de atención primaria para obtener una remisión o utilice el directorio [en inglés] Proporcionado por la American Academy of Dermatology Association para encontrar un especialista.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000MopWVAAZ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"069t000000MopWVAAZ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Dermatology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000VP3lYAG","title":"How do you find brain and nervous system specialists (neurologists)?","bodyText":"Neurologists are doctors with specialized training in diagnosing and treating conditions that affect the brain, spinal cord, and nerves. These parts of the nervous system help control how the body moves, feels, and thinks. Neurologists often care for people with seizures, memory problems, muscle weakness, movement disorders, and inherited conditions such as muscular dystrophies. To better understand a person's symptoms, neurologists may use imaging tests that show the brain or spine, or tests that measure the brain’s electrical activity.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American Board of Psychiatry and Neurology to find a specialist. ","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbizAAB","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Neurology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000Lay9YAC","title":"¿Cómo puede localizar especialistas en el cerebro y el sistema nervioso (neurólogos)?","bodyText":"Los neurólogos son médicos con formación especializada en el diagnóstico y tratamiento de enfermedades que afectan al cerebro, la médula espinal y los nervios. Estas estructuras del sistema nervioso regulan el movimiento, la sensibilidad y las funciones cognitivas del cuerpo. Los neurólogos suelen atender a pacientes con convulsiones, problemas de memoria, debilidad muscular, trastornos del movimiento y enfermedades hereditarias como las distrofias musculares. Para un mejor entendimiento de los síntomas, pueden emplear estudios de imagen que permiten visualizar el cerebro o la médula espinal, así como pruebas que registran la actividad eléctrica cerebral.

\n

 

\n

Se recomienda llevar a la consulta una copia de su historial médico y una lista actualizada de los medicamentos que esté tomando.

\n

 

\n

Consulte con su proveedor de atención primaria para obtener una remisión o utilice este directorio [en inglés] proporcionado por el American Board of Psychiatry and Neurology para encontrar un especialista.

\n

 

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbizAAB","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Neurology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XQ29YAG","title":"How do you find autoimmune and inflammatory disease specialists (rheumatologists)?","bodyText":"Rheumatologists are doctors with specialized training in diagnosing and managing diseases caused by inflammation when the body’s immune system does not work properly. This includes autoimmune diseases such as rheumatoid arthritis, lupus, and vasculitis, as well as autoinflammatory conditions. They may use lab tests, imaging, or biopsies to identify the cause and monitor disease activity.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American College of Rheumatology to find a specialist.","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000Ptbj1AAB","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Rheumatology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000Nbi1YAC","title":"¿Cómo puede localizar especialistas en enfermedades autoinmunes e inflamatorias (reumatólogos)?","bodyText":"Los reumatólogos son médicos especializados en el diagnóstico y manejo de enfermedades provocadas por inflamación, cuando el sistema inmunológico no funciona adecuadamente. Esto incluye enfermedades autoinmunes como la artritis reumatoide, el lupus y la vasculitis, así como afecciones autoinflamatorias. Para identificar la causa y monitorear la actividad de la enfermedad, pueden emplear análisis de laboratorio, estudios de imagen o biopsias.

\n

 

\n

Se recomienda llevar a la consulta una copia de su historial médico y una lista de los medicamentos que esté tomando.

\n

 

\n

Solicite a su médico de atención primaria una referencia o utilice el directorio [en inglés] proporcionado por el Colegio Americano de Reumatología para encontrar un especialista.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000Ptbj1AAB","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Rheumatology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000NbgPYAS","title":"¿Cómo puede localizar a especialistas en oídos, nariz y garganta (otorrinolaringólogos)?","bodyText":"Los otorrinolaringólogos, también conocidos como especialistas en oídos, nariz y garganta, son médicos con formación especializada en el diagnóstico, tratamiento y manejo integral de enfermedades que afectan los oídos, la nariz, la garganta, y las áreas relacionadas de la cabeza y el cuello. Comúnmente tratan infecciones crónicas del oído, problemas sinusales, alteraciones de la voz o la garganta, pérdida auditiva y trastornos del equilibrio. Algunos también se especializan en el tratamiento de cánceres o afecciones hereditarias que afectan esta región, y pueden enfocarse en áreas específicas, como la otorrinolaringología pediátrica o los tumores de cabeza y cuello.

\n

 

\n

Se recomienda llevar una copia de su historial médico y una lista actualizada de los medicamentos que esté tomando al momento de la consulta.

\n

 

\n

Consulte con su médico de atención primaria para solicitar una referencia, o utilice el directorio [en inglés] proporcionado por la Academia Americana de Otorrinolaringología Cirugía de Cabeza y Cuello para encontrar un especialista.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"0693d000006F8BkAAK","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Otolaryngology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XQ3lYAG","title":"How do you find ear, nose, and throat specialists (otolaryngologists)?","bodyText":"Otolaryngologists, also known as ear, nose, and throat doctors, are specialists trained to diagnose and manage conditions that affect the ears, nose, throat, and related areas of the head and neck. They commonly treat chronic ear infections, sinus conditions, voice or throat issues, hearing loss, and balance problems. Some may also manage cancers or inherited conditions affecting this region and may focus on specific areas like pediatric ENT or head and neck tumors.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral, or use this directory provided by the American Academy of Otolaryngology–Head and Neck Surgery to find a specialist.","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"0693d000006F8BkAAK","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Otolaryngology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XQ5NYAW","title":"How do you find women’s reproductive health specialists (obstetricians / gynecologists)?","bodyText":"Obstetricians and gynecologists (OB-GYN’s) are doctors with specialized training in caring for the female reproductive system. Gynecology focuses on reproductive health throughout a woman’s life, while obstetrics involves the care of women during pregnancy, childbirth, and recovery after birth. They help manage menstrual issues, pelvic pain, infertility, and conditions such as endometriosis, fibroids, ovarian cysts, and reproductive cancers. Some may have additional training in high-risk pregnancies, rare disorders, or inherited conditions.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American College of Obstetricians and Gynecologists to find a specialist.","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"0693d000006F7tIAAS","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Obstetrics / Gynecology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000NbenYAC","title":"¿Cómo puede localizar especialistas en la salud reproductiva de la mujer (obstetras/ginecólogos)?","bodyText":"Los obstetras y ginecólogos (OB-GYN) son médicos especializados en el cuidado del aparato reproductor femenino. La ginecología se enfoca en la salud reproductiva a lo largo de toda la vida de la mujer, mientras que la obstetricia se encarga de la atención durante el embarazo, el parto y el período de recuperación posparto. Estos especialistas tratan problemas menstruales, dolor pélvico, infertilidad y afecciones como la endometriosis, los fibromas, los quistes ováricos y los cánceres del aparato reproductor. Algunos cuentan con formación adicional en embarazos de alto riesgo, trastornos poco frecuentes o enfermedades hereditarias.

\n

 

\n

Se recomienda llevar a la consulta una copia de su historial médico y una lista actualizada de los medicamentos que esté tomando.

\n

 

\n

Consulte con su proveedor de atención primaria para obtener una remisión o utilice el directorio [en inglés] proporcionado por el American College of Obstetricians and Gynecologists para encontrar un especialista.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"0693d000006F7tIAAS","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Obstetrics / Gynecology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000VPTZYA4","title":"How do you find eye disease specialists (ophthalmologists)?","bodyText":"Ophthalmologists are doctors with specialized training in managing serious eye problems, including those that require surgery. They may have additional experience with rare or inherited eye diseases, birth defects, or eye conditions linked to the nervous or immune system. Some ophthalmologists focus on specific areas, such as diseases of the retina or cancers of the eye. They may use imaging, vision tests, and lab work to diagnose and guide treatment.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American Academy of Ophthalmology to find a specialist.","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000Ptbj0AAB","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Ophthalmology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000NbdBYAS","title":"¿Cómo puede localizar especialistas en enfermedades oculares (oftalmólogos)?","bodyText":"Los oftalmólogos son médicos especializados en el manejo de problemas oculares graves, incluidos aquellos que requieren intervención quirúrgica. Pueden contar con experiencia adicional en enfermedades oculares raras o hereditarias, defectos congénitos o afecciones relacionadas con el sistema nervioso o inmunológico. Algunos oftalmólogos se especializan en áreas específicas, como enfermedades de la retina o cánceres oculares. Para diagnosticar y orientar el tratamiento, emplean estudios de imagen, pruebas visuales y análisis de laboratorio.

\n

 

\n

Se recomienda llevar a la consulta una copia de su historial médico y una lista de los medicamentos que esté tomando.

\n

 

\n

Solicite a su médico de atención primaria una referencia o utilice el directorio [en inglés] proporcionado por la Academia Americana de Oftalmología para encontrar un especialista.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000Ptbj0AAB","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Ophthalmology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000NbbZYAS","title":"¿Cómo puede localizar a especialistas en cáncer (oncólogos)?","bodyText":"Los oncólogos son médicos con formación especializada en el diagnóstico, tratamiento y manejo integral de diversos tipos de cáncer, así como de afecciones que podrían volverse cancerosas. Algunos profesionales se especializan en tipos específicos de cáncer, como los hematológicos, el cáncer de mama o los tumores gastrointestinales. Algunos oncólogos cuentan con capacitación adicional en el abordaje de cánceres raros o hereditarios.

\n

Estos especialistas emplean una amplia gama de tratamientos, que incluyen cirugía, quimioterapia, radioterapia, inmunoterapia y terapias farmacológicas dirigidas.

\n

 

\n

Se recomienda llevar una copia de su historial médico, así como una lista actualizada de los medicamentos que esté tomando, al momento de acudir a su consulta.

\n

 

\n

Consulte con su médico de atención primaria para solicitar una referencia, o utilice el directorio de Medicare para localizar un oncólogo en su zona. Para facilitar la búsqueda, utilice las palabras clave “Médico Oncólogo”.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbhZAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Cancer - Oncologist"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000VPVBYA4","title":"How do you find cancer specialists (oncologists)?","bodyText":"Oncologists are doctors with specialized training in diagnosing, treating, and managing different types of cancer and conditions that could become cancerous. They may specialize in specific cancer types, such as blood cancers, breast cancer, or gastrointestinal cancers. Some oncologists also have training in rare or inherited cancers. They use a range of treatments, including surgery, chemotherapy, radiation therapy, immunotherapy, and targeted drug therapies.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory by Medicare to search for an oncologist in your area. Search using the keywords “Medical Oncology.”","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbhZAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Cancer - Oncologist"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000LzmrYAC","title":"¿Cómo puede localizar especialistas en enfermedades infecciosas?","bodyText":"Los especialistas en enfermedades infecciosas son médicos con formación avanzada en el diagnóstico y tratamiento de infecciones provocadas por bacterias, virus, hongos o parásitos. Frecuentemente, se encargan del manejo de infecciones complejas, persistentes o poco comunes, que pueden resultar difíciles de diagnosticar o tratar. Estos especialistas también cuentan con experiencia en infecciones asociadas a enfermedades raras, sistemas inmunitarios debilitados o viajes recientes a regiones donde ciertas infecciones son más prevalentes. Para identificar con precisión la causa de una infección, emplean diversas herramientas, incluyendo análisis de laboratorio especializados de sangre, tejidos o líquidos corporales. Los tratamientos pueden consistir en medicamentos administrados por vía oral, aplicación tópica, inyecciones o infusión intravenosa.

\n

 

\n

Se recomienda llevar a su cita una copia de su historial médico y una lista actualizada de los medicamentos que esté tomando.

\n

 

\n

Consulte con su proveedor de atención primaria para obtener una remisión o utilice este directorio proporcionado por Medicare para buscar un especialista. Realice la búsqueda utilizando las palabras clave “Enfermedades infecciosas”.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbDzAAJ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Infectious Disease"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XQ6zYAG","title":"How do you find infectious disease specialists?","bodyText":"Infectious disease specialists are doctors with advanced training in diagnosing and treating infections caused by bacteria, viruses, fungi, or parasites. They often help manage complex, persistent, or rare infections that are difficult to diagnose or treat. These specialists may also have experience with infections linked to rare diseases, weakened immune systems, or recent travel to areas where certain infections are more common. They use a range of tools including specialized lab testing of blood, tissue, or fluids to identify the exact cause of an infection. Treatments may involve medications taken by mouth, applied to the skin, or delivered through an injection or directly into a vein.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by Medicare to search for a specialist. Search using the keywords “Infectious Disease.”","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbDzAAJ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Infectious Disease"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000LTVFYA4","title":"¿Cómo puede localizar a especialistas en el sistema digestivo (gastroenterólogos)?","bodyText":"Los gastroenterólogos son médicos especializados en el diagnóstico y tratamiento de enfermedades que afectan el sistema digestivo, incluido el esófago, el estómago, los intestinos, el páncreas, la vesícula biliar y el hígado. Para evaluar la salud digestiva, pueden emplear tubos flexibles con cámaras, conocidos como endoscopios, que permiten visualizar el interior del tracto digestivo. Estos especialistas tratan afecciones como el reflujo gástrico, la enfermedad inflamatoria intestinal, las patologías hepáticas y los cánceres del sistema digestivo. Si presenta síntomas digestivos persistentes, como dolor abdominal, dificultad para tragar o alteraciones en los hábitos intestinales, un gastroenterólogo puede ayudar a determinar la causa y recomendar el tratamiento más adecuado.

\n

 

\n

Se recomienda llevar a la consulta una copia de su historial médico, así como una lista actualizada de los medicamentos que esté tomando.

\n

 

\n

Consulte con su médico de atención primaria para obtener una referencia, o utilice el directorio [en inglés] proporcionado por el Colegio Americano de Gastroenterología para localizar un especialista.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000Ptbl9AAB","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Gastroenterology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000VPYPYA4","title":"How do you find digestive system specialists (gastroenterologists)?","bodyText":"Gastroenterologists are doctors trained to diagnose and treat diseases that affect the digestive system, including the esophagus, stomach, intestines, pancreas, gallbladder, and liver. To evaluate digestive health, they may use flexible tubes with cameras called endoscopes to look inside the digestive tract. They treat conditions such as acid reflux, inflammatory bowel disease, liver disease, and digestive cancers. If you have ongoing digestive symptoms like abdominal pain, difficulty swallowing, or changes in bowel habits, a gastroenterologist can help find the cause and recommend treatment.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American College of Gastroenterology to find a specialist.","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000Ptbl9AAB","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Gastroenterology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XQADYA4","title":"How do you find blood and bone marrow specialists (hematologists)?","bodyText":"Hematologists are doctors with specialized training in diagnosing and treating diseases that affect the blood and bone marrow, where blood cells are produced. They also manage certain conditions of the lymphatic system, which includes the spleen and lymph tissues. Hematologists commonly care for people with anemia, bleeding or clotting disorders, and blood cancers such as leukemia and lymphoma. To diagnose these conditions, they may order blood tests or perform bone marrow biopsies.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by the American Society of Hematology to find a specialist.","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbhYAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Hematology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000NbWjYAK","title":"¿Cómo puede localizar a especialistas en enfermedades de la sangre y la médula ósea (hematólogos)?","bodyText":"Los hematólogos son médicos con formación especializada en el diagnóstico y tratamiento de enfermedades que afectan la sangre y la médula ósea, donde se producen las células sanguíneas. También se encargan del manejo de ciertas afecciones del sistema linfático, que incluye el bazo y los tejidos linfáticos. Los hematólogos suelen atender a personas con anemia, trastornos de sangrado o de coagulación, y cánceres de la sangre, como la leucemia y el linfoma. Para diagnosticar estas condiciones, pueden solicitar análisis de sangre o realizar biopsias de médula ósea.

\n

 

\n

Se recomienda acudir a la consulta con una copia de su historial médico, así como una lista actualizada de los medicamentos que esté tomando.

\n

 

\n

Consulte a su proveedor de atención primaria para solicitar una remisión, o utilice el directorio [en inglés] proporcionado por la Sociedad Americana de Hematología para encontrar un especialista.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbhYAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Hematology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XQBpYAO","title":"How do you find allergy and immune system specialists (allergists / immunologists)?","bodyText":"Allergists and immunologists are doctors with specialized training in diagnosing and managing conditions related to the immune system. They often care for people with allergies, asthma, chronic sinus or lung infections, immune deficiencies, or other conditions where the body’s immune response is not working properly. These specialists may use blood tests or skin tests to identify specific substances that trigger allergic or immune responses. They can also evaluate whether a person’s immune system is functioning as it should and help manage long-term or hard-to-treat immune-related conditions. Treatment may include medications, allergy shots, or therapies that help regulate or support the immune system. In some cases, they may help identify whether symptoms are related to a rare immune disorder that requires more targeted care.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral, or use this directory  provided by the American Academy of Allergy, Asthma, and Immunology to find a specialist.","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbGHAAZ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Immunology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000NbTVYA0","title":"¿Cómo puede localizar a especialistas en alergias y en el sistema inmunológico (alergólogos o inmunólogos)?","bodyText":"Los alergólogos e inmunólogos son médicos con formación especializada en el diagnóstico y manejo de enfermedades relacionadas con el sistema inmunológico. Con frecuencia, brindan atención a personas que presentan alergias, asma, infecciones crónicas de los senos paranasales o de los pulmones, deficiencias inmunitarias u otras afecciones en las que la respuesta inmunológica del organismo no funciona de manera adecuada. Estos especialistas pueden emplear análisis de sangre o pruebas cutáneas para identificar sustancias específicas que desencadenan respuestas alérgicas o inmunológicas. También están capacitados para evaluar si el sistema inmunológico de una persona funciona correctamente y para tratar afecciones inmunológicas de difícil manejo o de larga duración. El tratamiento puede incluir medicamentos, vacunas contra alergias (inmunoterapia) o terapias destinadas a regular o reforzar el sistema inmunológico. En algunos casos, pueden ayudar a determinar si los síntomas están relacionados con un trastorno inmunológico poco común que requiere una atención más especializada.

\n

 

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Se recomienda llevar a la consulta una copia de su historial médico y una lista actualizada de los medicamentos que esté tomando.

\n

 

\n

Consulte a su proveedor de atención primaria para solicitar una remisión, o utilice el directorio [en inglés] proporcionado por la Academia Americana de Alergia, Asma e Inmunología para encontrar un especialista.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbGHAAZ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Immunology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000VPlJYAW","title":"How do you find heart and blood vessel specialists (cardiologists)?","bodyText":"Cardiologists are doctors with specialized training in diagnosing and managing conditions that affect the heart and blood vessels. They commonly treat people with high blood pressure, heart rhythm problems, heart failure, or inherited heart conditions. Some cardiologists have additional expertise in managing rare or complex heart diseases that may be harder to detect. To assess heart health, cardiologists may use imaging tests, blood tests, or heart monitors that track rhythm and activity over time. Treatment can include medications, lifestyle changes, and procedures such as placing stents or implanting devices to help regulate the heartbeat. Cardiologists may also coordinate care with surgeons for structural heart problems or evaluate whether heart conditions are inherited.

You may want to consider bringing a copy of your medical history and a list of any medications to your appointment.

Ask your primary care provider for a referral or use this directory provided by Medicare to search for a specialist. Search using the keyword “Cardiology.”","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbhaAAB","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Cardiology"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000NbN3YAK","title":"¿Cómo puede localizar a un especialista en corazón y vasos sanguíneos (cardiólogo)?","bodyText":"Los cardiólogos son médicos con formación especializada en el diagnóstico y manejo de afecciones que afectan al corazón y los vasos sanguíneos. Comúnmente tratan a personas con hipertensión arterial, trastornos del ritmo cardíaco, insuficiencia cardíaca o enfermedades cardíacas hereditarias. Algunos cardiólogos poseen además una experiencia particular en el abordaje de enfermedades cardíacas raras o complejas, cuya detección puede resultar más difícil.

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Para evaluar la salud del corazón, los cardiólogos pueden utilizar pruebas de imagen, análisis de sangre o monitores cardíacos que registran el ritmo y la actividad del corazón a lo largo del tiempo. El tratamiento puede incluir medicamentos, cambios en el estilo de vida y procedimientos como la colocación de stents o la implantación de dispositivos para ayudar a regular el ritmo cardíaco. Los cardiólogos también pueden coordinar la atención con cirujanos para tratar problemas estructurales del corazón o evaluar si ciertas afecciones cardíacas tienen un origen hereditario.

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\n

Es recomendable llevar una copia de su historial médico y una lista de los medicamentos que toma a su cita médica.

\n

 

\n

Consulte con su proveedor de atención primaria para solicitar una remisión o utilice el directorio de Medicare para buscar un especialista. Realice la búsqueda utilizando la palabra clave “Cardiología”.

","tab":"Diagnosis","section":"MedTeam","subSection":"Specialists","allPages":false,"displayTitle":true,"images":[{"url":"069t000000PtbhaAAB","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Cardiology"],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000Kk9xYAC","title":"Navigating Health Care Decisions","bodyText":"On average, it can take more than six years to receive an accurate diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and patients often need to visit multiple specialists or seek second opinions to get answers.

\n

If a diagnosis remains unclear, visiting a multidisciplinary care center or university hospital may help. These centers bring together teams of specialists who can work together to evaluate symptoms and coordinate a diagnosis. This team-based approach is also helpful after a diagnosis, when managing care for rare diseases.

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Because only about 5% of rare diseases have FDA-approved treatments, finding the right healthcare team to manage your symptoms and overall health is essential. People living with rare diseases often face challenges such as delayed diagnosis, limited treatment options, and difficulty accessing knowledgeable providers. Building a care team that understands your needs can make a significant difference in your quality of life.

","tab":"Diagnosis","section":"Parent","allPages":true,"displayTitle":false,"images":[{"url":"0693d00000AitcMAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000AitcMAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000KkBZYA0","title":"Proceso para el Diagnóstico","bodyText":"En promedio, el proceso para obtener un diagnóstico preciso de una enfermedad rara puede superar los seis años. Es posible que muchos médicos de atención primaria no estén familiarizados con estas patologías, lo que podría requerir que consulte a varios especialistas para obtener un diagnóstico adecuado. Sin embargo, abogar por su salud ante su equipo médico puede contribuir a acelerar este proceso. Para enfrentar los desafíos comunes, es esencial que se prepare de manera adecuada:

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Conocer cómo iniciar su proceso diagnóstico y abordar los pasos posteriores es clave para agilizar la obtención del diagnóstico. 

","tab":"Diagnosis","section":"Parent","allPages":true,"displayTitle":false,"images":[{"url":"0693d00000AitcMAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000AitcMAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000KjtpYAC","title":"Navigating Health Care Decisions","bodyText":"","tab":"Diagnosis","section":"Parent","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000Kk3VYAS","title":"Proceso para el Diagnóstico","bodyText":"","tab":"Diagnosis","section":"Parent","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000KgkfYAC","title":"These specialists may help in the diagnosis, management, and treatment of ${DiseaseName}:","bodyText":"","tab":"Diagnosis","section":"MedTeam","subSection":"TaggedSpecialist","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000KgeDYAS","title":"Su Equipo Médico para el Diagnóstico","bodyText":"","tab":"Diagnosis","section":"MedTeam","subSection":"SectionHeader","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000Kn4bYAC","title":"Your Health Care Team","bodyText":"","tab":"Diagnosis","section":"MedTeam","subSection":"SectionHeader","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000aH7BYAU","title":"Accesibilidad","bodyText":"Hacemos todo lo posible para garantizar que la información disponible en este sitio web sea accesible para todas las personas.

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Si utiliza dispositivos de asistencia y tiene dificultades para acceder a este sitio web, por favor complete nuestro formulario de contacto. Indique qué información necesita y cómo le gustaría recibirla. Si desea que le enviemos la información por correo postal, por favor incluya su dirección postal.

","tab":"Accessibility","allPages":false,"displayTitle":true,"order":3,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000aE4TYAU","title":"Accessibility","bodyText":"We make every effort to ensure that the information available on this website is accessible to all.

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If you use adaptive equipment and you have trouble with this website, please fill out our contact form. Tell us what information you want and how you'd like to receive it. If you want us to mail you the information, please provide your mailing address.

","tab":"Accessibility","allPages":false,"displayTitle":true,"order":3,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000aZIbYAM","title":"Contáctenos","bodyText":"¿Usted o alguien que conoce está buscando información sobre enfermedades raras? Invitamos a pacientes, familiares, cuidadores y cualquier persona que necesite información sobre enfermedades raras a contactarnos a través de nuestro formulario de contacto. Nuestros especialistas en información ofrecen respuestas personalizadas, claras y fáciles de entender, sin costo y de forma confidencial.

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Los Especialistas en Información de GARD pueden asistir en la búsqueda de información sobre:

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También le recomendamos que consulte nuestra sección de Información y Apoyo (En inglés) Estos recursos están diseñados para abordar las necesidades comunes de los pacientes y familias afectadas por enfermedades raras, e incluyen información de contacto de centros especializados en enfermedades raras fuera de los Estados Unidos.

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Importante: GARD proporciona información sobre enfermedades genéticas y raras para conocimiento general y no sustituye el consejo médico.

","tab":"ContactUs","section":"ContactCenter","subSection":"GARDOverview","allPages":false,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000aFuzYAE","title":"Get In Touch","bodyText":"Are you or someone you know looking for information about rare diseases? We invite patients, family members, caregivers, and others seeking information about rare diseases to contact us through our contact form. Our Information Specialists provide personalized responses that are easy to understand, free of charge, and confidential.
 

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GARD Information Specialists can help find information about: 

\n\n


We also encourage you to visit our Support Center. These resources address common needs of rare disease patients and families, including contact information for rare disease centers outside of the United States. 

Important: GARD provides information about genetic and rare diseases for your general knowledge and is not a substitute for medical advice.

","tab":"ContactUs","section":"ContactCenter","subSection":"GARDOverview","allPages":false,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000JMCvYAO","title":"Resource(s) for Medical Professionals and Scientists on This Disease:","bodyText":"GARD does not currently have resources about this disease to provide to your medical professionals.","tab":"About","section":"DiseaseAtAGlance","subSection":"MoreInfo","subSubsection":"Parent","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":true,"language":"en_US"},{"id":"ka0SJ000000JLITYA4","title":"Population Estimate:","bodyText":"GARD does not currently have population estimates available for this disease.","tab":"About","section":"DiseaseAtAGlance","subSection":"Estimate_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":true,"language":"en_US"},{"id":"ka0SJ000000IsGTYA0","title":"¿Cómo puede costear la atención médica que necesita?","bodyText":"","tab":"LivingWith","section":"PatientResources","subSection":"Managing","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XHGbYAO","title":"How can you afford the care you need?","bodyText":"","tab":"LivingWith","section":"PatientResources","subSection":"Managing","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000Is3ZYAS","title":"Patient Resources","bodyText":"The impacts of living with a rare disease can be widespread, affecting finances, access to care, everyday responsibilities, and mental health. The following resources may help address some of the common challenges faced by individuals living with a rare disease.","tab":"LivingWith","section":"PatientResources","subSection":"Parent","allPages":true,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000Is6nYAC","title":"Recursos para los Pacientes","bodyText":"Los efectos de recibir un diagnóstico de una enfermedad rara pueden ser significativos y de gran alcance, impactando las finanzas, el acceso a la atención médica, las responsabilidades diarias y la salud mental. Los recursos siguientes pueden ayudar a abordar algunos de los retos comunes a los que se enfrentan las personas con un diagnóstico de enfermedad rara.
","tab":"LivingWith","section":"PatientResources","subSection":"Parent","allPages":true,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HnnVYAS","title":"Discover Resources","bodyText":"","tab":"LivingWith","section":"Parent","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000Irp3YAC","title":"Descubra los Recursos","bodyText":"","tab":"LivingWith","section":"Parent","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000IrNdYAK","title":"Consulte con un Especialista en Información","bodyText":"https://contact.rarediseases.info.nih.gov/Gard/s/?language=es_MX","tab":"ContactUs","section":"ContactCenter","subSection":"ContactUsContactFormButton","allPages":false,"displayTitle":true,"order":5,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X2W5YAK","title":"Ask a GARD Specialist","bodyText":"https://contact.rarediseases.info.nih.gov/Gard/s/?language=en_US","tab":"ContactUs","section":"ContactCenter","subSection":"ContactUsContactFormButton","allPages":false,"displayTitle":true,"order":5,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IZybYAG","title":"Comuníquese con GARD","bodyText":"Utilice el formulario de contacto para enviar su pregunta a un Especialista en Información de GARD.

Por favor, tenga en cuenta que nuestro equipo puede tardar de 2 a 10 días hábiles en responder.","tab":"ContactUs","section":"ContactCenter","subSection":"ContactForm","allPages":false,"displayTitle":true,"order":4,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000Ia1pYAC","title":"Contact GARD","bodyText":"Use the contact form to send your question to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.","tab":"ContactUs","section":"ContactCenter","subSection":"ContactForm","allPages":false,"displayTitle":true,"order":4,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IZk5YAG","title":"Búsqueda de enfermedades  ","bodyText":"","tab":"About","section":"GARDEfforts","subSection":"BrowseDiseaseButton","allPages":false,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X2XhYAK","title":"Browse by Disease","bodyText":"","tab":"About","section":"GARDEfforts","subSection":"BrowseDiseaseButton","allPages":false,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IKZlYAO","title":"Population Estimate:","bodyText":"Fewer than ${CuratedUSAEstimate} people in the U.S. have this disease.","tab":"About","section":"DiseaseAtAGlance","subSection":"Estimate_Snippet","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IKY9YAO","title":"Impaired Lysosomal Function","bodyText":"This disease is caused by an impairment, or issue, in lysosomal function. Lysosomes are located inside cells and contain digestive enzymes that help break down fats, sugars, and other substances to create energy for the body. Genetic mutations can affect lysosomes such as having a missing or non-functioning digestive enzyme. This can prevent cells from properly breaking down toxins or moving them out of the cell. If toxins build up, the cell may become damaged or die. Depending on their location in the body, these damaged or dead cells may affect different organs and body systems.","tab":"About","section":"Causes","subSection":"CauseExplanation","allPages":false,"displayTitle":true,"order":11,"images":[{"url":"0693d00000BlGC3AAN","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Lysosomal"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IKWXYA4","title":"Damaged White Matter in CNS","bodyText":"${DiseaseName} is caused by damaged white matter in the central nervous system (CNS). The brain and spinal cord make up the CNS. The white matter portions of the CNS get its color from a tissue called myelin. Myelin is made up of proteins and fatty materials called lipids. Myelin wraps around nerves, protecting them and helping to speed up the signals between nerves in the CNS. Genetic changes can affect the growth or function of myelin, which can slow or block the communication between nerves. Learn more about leukodystrophies from the National Institute of Neurological Disorders and Stroke (NINDS).","tab":"About","section":"Causes","subSection":"CauseExplanation","allPages":false,"displayTitle":true,"order":10,"images":[{"url":"0693d00000AoFyLAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Leukodystrophy"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IKUvYAO","title":"Impaired Mitochondrial Function","bodyText":"${DiseaseName} is caused by an impairment, or issue, in mitochondrial function. Mitochondria make the energy needed for cells to work properly. When mitochondria are unable to produce enough energy for a cell, the cell can become damaged or can die. Depending on the location and number of damaged cells, different organs and body systems can be affected. Learn more about mitochondrial diseases from the National Library of Medicine (NLM).","tab":"About","section":"Causes","subSection":"CauseExplanation","allPages":false,"displayTitle":true,"order":12,"images":[{"url":"0693d00000BXVKnAAP","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Mitochondrial"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2xVYAS","title":"FOIA","bodyText":"Freedom of Information Act (FOIA) Requests
The Freedom of Information Act (FOIA), 5 U.S.C. 552, provides individuals with a right to access to records in the possession of the Federal government. The government may withhold information pursuant to the nine exemptions and three exclusions contained in the Act.

If you have questions regarding FOIA requests pending with NCATS or questions specific to NCATS records, please contact Marianne Manheim, NCATS FOIA and Privacy Act Coordinator, by phone at 1-301-496-9737 or email (nhlbifoiarequest@nhlbi.nih.gov ).

For more details about the types of information you can request through FOIA, or to submit a FOIA Request with NIH, visit the National Institutes of Health FOIA Page. 

For More Information
Marianne Manheim, JD
Government Information Specialist
Freedom of Information and Privacy Act Branch
National Heart, Lung, and Blood Institute
National Institutes of Health
FOIA Line: 1-301-496-9737
Fax: 301-402-3604
Email: nhlbifoiarequest@nhlbi.nih.gov","tab":"FOIA","allPages":false,"displayTitle":true,"order":4,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IrYvYAK","title":"FOIA","bodyText":"Solicitudes de la Ley de Libertad de Información (FOIA)
La Ley de Libertad de Información (FOIA), 5 USC 552, otorga a las personas el derecho a acceder a los registros en posesión del Gobierno federal. El Gobierno podría retener información en virtud de las nueve exenciones y tres exclusiones que aparecen en la FOIA.

Si tiene preguntas sobre las solicitudes de la FOIA pendientes con el NCATS o preguntas específicas sobre los registros del NCATS, comuníquese con Marianne Manheim, Coordinadora de la FOIA del NCATS y la Ley de Privacidad, por teléfono al 1-301-496-9737 o por correo electrónico (nhlbifoiarequest@nhlbi.nih.gov).

Para obtener más detalles sobre los tipos de información que puede solicitar por medio de la FOIA, o para enviar una solicitud de la FOIA a los NIH, visite la página de la FOIA de los Institutos Nacionales de Salud [en inglés]. 

Para más información
Marianne Manheim, JD
Especialista en información gubernamental
Rama de la Ley de Libertad de Información y Privacidad
Instituto Nacional del Corazón, los Pulmones y la Sangre
Línea de FOIA: 1-301-496-9737
Fax: 301-402-3604
Correo electrónico: nhlbifoiarequest@nhlbi.nih.gov","tab":"FOIA","allPages":false,"displayTitle":true,"order":4,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000IHATYA4","title":"Bacterial Infection","bodyText":"This disease is caused by harmful bacteria that enter the body. Bacteria are single-celled organisms that release toxins as they multiply. Bacterial infections can be contagious. You may get a bacterial infection when you come into close contact with contaminated surfaces, eat or drink contaminated food or water, or are exposed to other people who can spread the bacteria. Often, bacterial infections enter your body through your mouth, nose, eyes, or a cut in your skin. Learn more about bacterial infectious diseases through the National Library of Medicine.","tab":"About","section":"Causes","subSection":"CauseExplanation","allPages":false,"displayTitle":true,"order":2,"images":[],"tags":["Rare Bacterial Infectious Disease"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3lVYAS","title":"Nervous System","bodyText":"The nervous system is made up of the brain, spinal cord, and nerves. Common symptoms of problems in the nervous system include trouble moving, speaking, swallowing, breathing, or learning. Problems with memory, senses, or mood may also occur. Nervous system diseases are usually diagnosed and treated by neurologists.","tab":"About","section":"Symptoms","allPages":false,"displayTitle":true,"images":[{"url":"069t000000MoVooAAF","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"069t000000MoVooAAF","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Nervous System"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IZXBYA4","title":"Buscar la enfermedad (En Inglés)","bodyText":"Buscar la enfermedad (En Inglés)","tab":"Home","section":"Header","allPages":false,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X3tZYAS","title":"Search for a disease","bodyText":"Search for a disease","tab":"Home","section":"Header","allPages":false,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3vBYAS","title":"Skin System","bodyText":"The skin or integumentary system is made up of skin, hair, nails, sweat glands, and oil glands. Common symptoms of problems in the skin system include redness, swelling, burning, itching, rashes, and hives. Skin diseases are often diagnosed and treated by dermatologists. Other specialists may also be involved including rheumatologists, allergists, and infectious disease doctors.","tab":"About","section":"Symptoms","allPages":false,"displayTitle":true,"images":[{"url":"069t000000MoVnHAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"069t000000MoVnHAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Skin System"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3wnYAC","title":"Endocrine System","bodyText":"The endocrine system is made up of a series of glands that produce and secrete hormones throughout the body, including the thyroid, pituitary, pineal, and adrenal glands, and the thymus, pancreas, testes, and ovaries. When endocrine glands produce too much or too little hormone, health problems such as weight gain, high blood pressure, and changes in sleep, mood, and behavior can occur. Disease of the endocrine can be diagnosed and treated by an endocrinologist.","tab":"About","section":"Symptoms","allPages":false,"displayTitle":true,"images":[{"url":"069t000000MoVLGAA3","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"069t000000MoVLGAA3","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Endocrine System"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3yPYAS","title":"Cardiovascular System","bodyText":"The cardiovascular system is made up of the heart and blood vessels, including the arteries, veins, and capillaries. 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Diseases affecting the musculoskeletal system may be diagnosed and treated by an orthopedist, rheumatologist, or neuromuscular specialist.","tab":"About","section":"Symptoms","allPages":false,"displayTitle":true,"images":[{"url":"069t000000MoVUJAA3","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"069t000000MoVUJAA3","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Musculoskeletal System"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X43FYAS","title":"Respiratory System","bodyText":"The respiratory system is made up of the lungs and the nose, mouth, throat, voice box, windpipe, diaphragm, and muscles of the chest wall. This system controls breathing, providing the body with oxygen and getting rid of carbon dioxide. Common symptoms of problems in the respiratory system include chronic cough, shortness of breath, chronic chest pain, coughing up blood, and chronic mucus production. Diseases of the respiratory system may be diagnosed and treated by a pulmonologist.","tab":"About","section":"Symptoms","allPages":false,"displayTitle":true,"images":[{"url":"069t000000MoVfKAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"069t000000MoVfKAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Respiratory System"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X44rYAC","title":"Immune System","bodyText":"The immune system is a complex network of cells, tissues, and organs that together help the body fight infections and other diseases. This system is made up of the skin, mucous membranes, white blood cells, and organs and tissues of the lymph system, including the thymus, spleen, tonsils, lymph nodes, lymph vessels and bone marrow. Common symptoms of problems in the immune system include fatigue, joint pain, skin rash, abdominal pain or digestive issues, fever, swollen glands, repeated infections, or headaches. Diseases of the immune system may be diagnosed and treated by an allergist, immunologist, or rheumatologist.","tab":"About","section":"Symptoms","allPages":false,"displayTitle":true,"images":[{"url":"069t000000FHdP0AAL","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"069t000000FHdP0AAL","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Immune System"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000XKzFYAW","title":"What Are Clinical Studies?","bodyText":"Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

\n
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
\n

Learn more about clinical trials from this National Institutes of Health webpage.

","tab":"About","section":"Research","subSection":"ClinicalStudy","allPages":true,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X485YAC","title":"Organizations:","bodyText":"Contact a GARD Information Specialist to help search for patient organizations dedicated to this rare disease.","tab":"About","section":"DiseaseAtAGlance","subSection":"PAG_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":true,"language":"en_US"},{"id":"ka0SJ000000IsmjYAC","title":"Metodología inclusiva","bodyText":"GARD tiene como objetivo proporcionar la mejor información disponible sobre enfermedades raras, incluidas aquellas que no son ampliamente identificadas o comprendidas.","tab":"About","section":"GARDEfforts","subSection":"Guidance","allPages":false,"displayTitle":true,"order":6,"images":[{"url":"0693d00000CpW5GAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X3iHYAS","title":"Inclusive Methodology","bodyText":"GARD aims to provide the best-available information on rare diseases, including those not widely identified or understood.","tab":"About","section":"GARDEfforts","subSection":"Guidance","allPages":false,"displayTitle":true,"order":6,"images":[{"url":"0693d00000CpW5GAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3gfYAC","title":"Search ClinicalTrials.gov for this disease.","bodyText":"","tab":"About","section":"Research","subSection":"ClinicalTrialsGov","subSubsection":"Button","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3f3YAC","title":"Participate in Research","bodyText":"Clinical studies are a part of clinical research and play an important role in medical advances for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.","tab":"About","section":"Research","subSection":"Intro","allPages":true,"displayTitle":false,"images":[{"url":"0693d000006vmYVAAY","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d000006vmYVAAY","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3dRYAS","title":"Multidisciplinary Care Centers","bodyText":"","tab":"Diagnosis","section":"CareCenters","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3aDYAS","title":"Resource(s) for Medical Professionals and Scientists on This Disease:","bodyText":"","tab":"About","section":"DiseaseAtAGlance","subSection":"MoreInfo","subSubsection":"Parent","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3YbYAK","title":"Genetic Mutations","bodyText":"${DiseaseName} is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. Learn more about genetic diseases from the National Library of Medicine (NLM).

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.","tab":"About","section":"Causes","subSection":"CauseExplanation","allPages":false,"displayTitle":true,"order":6,"images":[{"url":"0693d00000BXWC6AAP","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Genetics"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3WzYAK","title":"Chromosomal Changes","bodyText":"${DiseaseName} is caused by a change in the number of chromosomes a person has, or a change in their structure.  Chromosomes are structures within cells that hold all our genes. People usually have 46 chromosomes; 23 come from the biological mother and 23 come from the biological father. Most of the time, chromosomal changes occur randomly in the sperm or egg, but some changes are known to be passed on from parent to child. Learn more about chromosomal diseases from the National Human Genome Research Institute (NHGRI).

Given the known chromosomal changes for this disease, you may want to ask your health care team if chromosome testing is right for you. Results from chromosome testing can confirm or rule out a suspected chromosomal disease or help determine a person’s chance of passing on a disease. Visit the NHGRI website to learn about microarray technology used in chromosomal testing, understand how a karyotype can be used to determine chromosomal abnormalities, and discover the FISH lab technique used to detect a specific DNA sequence on a chromosome.","tab":"About","section":"Causes","subSection":"CauseExplanation","allPages":false,"displayTitle":true,"order":8,"images":[{"url":"0693d00000AoEhAAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Chromosomal Anomaly"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000LBYLYA4","title":"Known Genetic Mutations","bodyText":"${DiseaseName} is caused by genetic mutations in the following known gene(s):

${DiseaseGeneSymbols}
Learn more about these genes by searching them on the National Library of Medicine (NLM).

Given these known genetic mutation(s), you may want to ask your health care team if genetic testing is right for you. Genetic tests are laboratory tests that use samples of blood, saliva, or other tissues to help identify changes in genes, chromosomes, or proteins. Genetic testing can help confirm or rule out a suspected genetic disease or can provide other useful information to your health care team. Learn more about genetic testing from the National Human Genome Research Institute (NHGRI).","tab":"About","section":"Causes","subSection":"CauseExplanation","subSubsection":"CausalGene","allPages":false,"displayTitle":true,"order":7,"images":[{"url":"0693d00000BJgSOAA1","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3VNYA0","title":"This information comes from ${OrphanetLink}","bodyText":"","tab":"About","section":"DiseaseAtAGlance","subSection":"AgeOnset","subSubsection":"Resources","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3S9YAK","title":"Professional Resource - Orpha.net External ID Link","bodyText":"provides GARD with information for this disease.","tab":"About","section":"DiseaseAtAGlance","subSection":"MoreInfo","subSubsection":"Resources","allPages":false,"displayTitle":false,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3QXYA0","title":"Biomedical Data Translator Resource Description","bodyText":"integrates multiple types of existing data sources relevant to understanding pathophysiology.","tab":"About","section":"DiseaseAtAGlance","subSection":"MoreInfo","subSubsection":"Resources","allPages":false,"displayTitle":false,"order":4,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3OvYAK","title":"RareSource Resource Description","bodyText":"offers rare disease gene variant annotations and links to rare disease gene literature.","tab":"About","section":"DiseaseAtAGlance","subSection":"MoreInfo","subSubsection":"Resources","allPages":false,"displayTitle":false,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IZc1YAG","title":"Contáctenos","bodyText":"Si no puede encontrar la información o los recursos que busca, los especialistas en información de GARD pueden ayudarlo.","tab":"ContactUs","section":"Header","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000AOvkSAAT","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d000009xZptAAE","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X2nqYAC","title":"Contact Us","bodyText":"If you are unable to find the information or resources you are looking for, GARD Information Specialists can help.","tab":"ContactUs","section":"Header","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000AOvkSAAT","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d000009xZptAAE","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IZfFYAW","title":"Encabezado de la Página de Inicio","bodyText":"","tab":"Home","section":"Header","allPages":false,"displayTitle":false,"order":1,"images":[{"url":"0693d00000AOsZfAAL","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000A6v5HAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X3NJYA0","title":"Home Header","bodyText":"","tab":"Home","section":"Header","allPages":false,"displayTitle":false,"order":1,"images":[{"url":"0693d00000AOsZfAAL","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000A6v5HAAR","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3LhYAK","title":"Symptoms Intro","bodyText":"The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.

The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):","tab":"About","section":"Symptoms","subSection":"Parent","allPages":true,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3K5YAK","title":"Resources and Support","bodyText":"Find resources for patients and caregivers that address the challenges of navigating life with a rare disease.","tab":"All","section":"Breadcrumb","subSection":"LivingWith","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X3GrYAK","title":"Parasitic Infection","bodyText":"This disease is caused by a parasite living in or on a person. Examples of parasites include mites, parasitic worms, fungi, and single-celled organisms. 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Los siguientes recursos pueden ayudar a los cuidadores a asumir estas responsabilidades.","tab":"LivingWith","section":"CaregiverResources","subSection":"Parent","allPages":true,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X3APYA0","title":"Keyword","bodyText":"Search by Name and Synonym","tab":"Browse","section":"Filter","subSection":"Keyword","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X38nYAC","title":"Patient Organizations","bodyText":"","tab":"About","section":"PatientOrganizations","subSection":"SectionSubHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IsbRYAS","title":"Encuentre su comunidad","bodyText":"","tab":"About","section":"PatientOrganizations","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X37BYAS","title":"Find Your Community","bodyText":"","tab":"About","section":"PatientOrganizations","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X33xYAC","title":"Symptoms","bodyText":"","tab":"About","section":"Symptoms","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X32LYAS","title":"Causes","bodyText":"","tab":"About","section":"Causes","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HwnZYAS","title":"Rare Disease Experts","bodyText":"","tab":"Diagnosis","section":"FindingExpert","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IsZpYAK","title":"Expertos en Enfermedades Raras","bodyText":"","tab":"Diagnosis","section":"FindingExpert","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HwlxYAC","title":"Contact GARD Intro for Tab A","bodyText":"Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.","tab":"About","section":"Research","subSection":"GARDContactCenter","subSubsection":"Intro","allPages":true,"displayTitle":false,"order":1,"images":[{"url":"0693d00000ChtIcAAJ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HwkLYAS","title":"Contact GARD - Tab B","bodyText":"Finding the right health care provider or getting the correct diagnosis may prove challenging. GARD can help. Contact a GARD Information Specialist to receive the individualized support you may need.","tab":"Diagnosis","section":"ContactUs","subSection":"Parent","allPages":true,"displayTitle":false,"images":[{"url":"0693d00000ChtIcAAJ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HwfVYAS","title":"Contact GARD - Tab C","bodyText":"If you can't find the rare disease resource you are looking for, GARD can help. 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Comuníquese con un Especialista en Información de GARD para ayudarle a buscar los recursos que pueda necesitar.","tab":"LivingWith","section":"ContactUs","subSection":"Parent","allPages":true,"displayTitle":false,"images":[{"url":"0693d00000ChtIcAAJ","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HwdtYAC","title":"Cause:","bodyText":"This disease is caused by a parasite.","tab":"About","section":"DiseaseAtAGlance","subSection":"Cause_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":["Rare Parasitic Disease"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HwZ3YAK","title":"Discover Resources","bodyText":"Some of the biggest challenges the rare disease community faces are finding reliable resources and support. Whether you’re a patient or caregiver, GARD aims to help you find the information you may need to navigate life with a rare disease. This includes resources on financial support, tools to help you communicate with your provider, and more. If you’re unable to find a resource that meets your need(s), please contact a GARD Information Specialist.

Please note that GARD provides organizations and resources for informational purposes only. Their inclusion does not reflect an endorsement by GARD or the NIH. Contact an organization directly if you have questions about the information or resources it may provide.","tab":"LivingWith","section":"Parent","subSection":"Intro","allPages":false,"displayTitle":false,"images":[{"url":"0693d00000BU5fBAAT","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IrsHYAS","title":"Descubra los Recursos","bodyText":"Uno de los principales desafíos que enfrenta la comunidad de personas con enfermedades raras es la dificultad para encontrar recursos confiables y apoyo. Tanto si usted es un paciente o un cuidador, GARD tiene como objetivo asistirle en la búsqueda de la información necesaria para vivir con una enfermedad rara. Esto abarca recursos sobre apoyo financiero, herramientas para facilitar la comunicación con su proveedor de atención médica, entre otros. Si no logra encontrar un recurso que satisfaga sus necesidades, por favor, póngase en contacto con un Especialista en Información de GARD.\n

Es importante destacar que GARD proporciona información sobre organizaciones y recursos únicamente con fines informativos. Su inclusión no implica un respaldo por parte de GARD o los NIH. Le recomendamos comunicarse directamente con la organización si tiene preguntas sobre la información o los recursos que ofrece.
","tab":"LivingWith","section":"Parent","subSection":"Intro","allPages":false,"displayTitle":false,"images":[{"url":"0693d00000BU5fBAAT","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000IrdlYAC","title":"Información accionable","bodyText":"GARD le proporciona la información de salud pública que pueda necesitar para obtener un diagnóstico, manejar su atención médica o formar una comunidad de apoyo.","tab":"About","section":"GARDEfforts","subSection":"HealthInformation","allPages":false,"displayTitle":true,"order":5,"images":[{"url":"0693d00000CpWXHAA3","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HwUDYA0","title":"Actionable Information","bodyText":"GARD provides you with the public health information you may need to find a diagnosis, manage your care, or build a community of support.","tab":"About","section":"GARDEfforts","subSection":"HealthInformation","allPages":false,"displayTitle":true,"order":5,"images":[{"url":"0693d00000CpWXHAA3","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HwIvYAK","title":"Pediatric Diagnostic Journey","bodyText":"A PCP that specializes in the care of children is called a pediatrician. Use this tool by the American Academy of Pediatrics to find a pediatrician in your area by inputting your location.","tab":"Diagnosis","section":"MedTeam","subSection":"Parent","allPages":false,"displayTitle":false,"order":2,"images":[],"tags":["Pediatrics"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IsI5YAK","title":"Recursos para la Toma de Decisiones Relacionadas con la Atención Médica","bodyText":"Al enfrentar la vida con una enfermedad rara, es probable que deba tomar decisiones difíciles en cuanto a su atención médica. Es fundamental estar lo mejor informado posible al tomar estas decisiones para garantizar que reciba la atención que necesita. Los siguientes recursos pueden ser de ayuda para orientarle en la búsqueda de un diagnóstico, en la comunicación con su equipo médico y en la comprensión de alternativas de cuidado.","tab":"LivingWith","section":"InformedDecisions","subSection":"Parent","allPages":true,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000XJzxYAG","title":"Resources for Your Health Care Decisions","bodyText":"As you navigate life with a rare disease, you may face many difficult decisions regarding your health care. It is important to be as informed as possible when making these decisions to ensure you receive the care you need. There are resources available that may help you decide what to do when searching for a diagnosis, communicating with your health care team, and understanding alternative forms of care.","tab":"LivingWith","section":"InformedDecisions","subSection":"Parent","allPages":true,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HpFpYAK","title":"Resources","bodyText":"Whether you're a patient or caregiver, GARD can help connect you with the resources and support you need to navigate life with a rare disease.
Please note that GARD provides organizations and resources for informational purposes only. Their inclusion does not reflect an endorsement by GARD or the NIH.","tab":"Resources","section":"Header","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IsLJYA0","title":"Recursos","bodyText":"Tanto si es usted un paciente como un cuidador, GARD puede ayudarle a ponerse en contacto con los recursos y el apoyo que necesita para afrontar la vida con una enfermedad rara.
Tenga en cuenta que GARD proporciona organizaciones y recursos únicamente con fines informativos. Su inclusión no refleja el respaldo de GARD o de los NIH.","tab":"Resources","section":"Header","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000bVUfYAM","title":"(Spanish) Contact Center Information and Inquiry Form Link","bodyText":"Por favor, espere de 2 a 10 días hábiles para recibir nuestra respuesta.","linkText":"Consulte con un Especialista en Información","linkUrl":"https://contact.rarediseases.info.nih.gov/Gard/s/?language=es_MX","tab":"All","section":"GARDContactCenter","subSection":"ContactCenterInfo","allPages":false,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000aTWXYA2","title":"Disease Page Contact Center Information","bodyText":"Please allow 2 to 10 business days for us to respond.","linkText":"Contact GARD","linkUrl":"https://contact.rarediseases.info.nih.gov/Gard/s/?language=en_US","tab":"All","section":"GARDContactCenter","subSection":"ContactCenterInfo","allPages":false,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HoZtYAK","title":"Summary","bodyText":"","tab":"About","section":"DiseaseAtAGlance","subSection":"Summary","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IrfNYAS","title":"Enfoque simplificado","bodyText":"GARD traduce el texto científico desarrollado para médicos e investigadores en información fácil de entender para ayudarle a comunicarse con sus proveedores de atención médica.","tab":"About","section":"GARDEfforts","subSection":"Collaboration","allPages":false,"displayTitle":true,"order":7,"images":[{"url":"0693d00000CpVbLAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HoQDYA0","title":"Simplified Approach","bodyText":"GARD translates scientific language developed for clinicians and researchers into easy-to-understand information to help you communicate with your health care providers.","tab":"About","section":"GARDEfforts","subSection":"Collaboration","allPages":false,"displayTitle":true,"order":7,"images":[{"url":"0693d00000CpVbLAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IrSTYA0","title":"Envíe su Organización","bodyText":"Utilice el formulario de solicitud para sugerir adiciones o actualizaciones a la lista de organizaciones de pacientes de GARD.","tab":"ContactUs","section":"ContactCenter","subSection":"RequestForm","allPages":false,"displayTitle":true,"order":6,"images":[{"url":"0693d00000ChSJRAA3","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HoJlYAK","title":"Submit Your Organization","bodyText":"Use our request form to suggest additions or updates to patient organizations included on GARD.","tab":"ContactUs","section":"ContactCenter","subSection":"RequestForm","allPages":false,"displayTitle":true,"order":6,"images":[{"url":"0693d00000ChSJRAA3","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IrQrYAK","title":"Comuníquese con GARD","bodyText":"Utilice el formulario de contacto para enviar su pregunta a un Especialista en Información de GARD.

Por favor, tenga en cuenta que nuestro equipo puede tardar de 2 a 10 días hábiles en responder.","tab":"Home","section":"ContactUs","subSection":"ContactForm","allPages":false,"displayTitle":true,"order":4,"images":[{"url":"0693d00000ChRG7AAN","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HoGXYA0","title":"Contact GARD","bodyText":"Use the contact form to send your question to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.","tab":"Home","section":"ContactUs","subSection":"ContactForm","allPages":false,"displayTitle":true,"order":4,"images":[{"url":"0693d00000ChRG7AAN","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HoEvYAK","title":"GeneReviews Resource Description","bodyText":"provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.","tab":"About","section":"DiseaseAtAGlance","subSection":"MoreInfo","subSubsection":"Resources","allPages":false,"displayTitle":false,"order":3,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IsErYAK","title":"Recursos para la Toma de Decisiones Relacionadas con la Atención Médica","bodyText":"","tab":"LivingWith","section":"InformedDecisions","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HnxBYAS","title":"Resources for Your Health Care Decisions","bodyText":"","tab":"LivingWith","section":"InformedDecisions","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IrlpYAC","title":"Recursos para los Pacientes","bodyText":"","tab":"LivingWith","section":"PatientResources","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HntxYAC","title":"Patient Resources","bodyText":"","tab":"LivingWith","section":"PatientResources","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IsA1YAK","title":"Recursos para los Cuidadores","bodyText":"","tab":"LivingWith","section":"CaregiverResources","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000Hnp7YAC","title":"Caregiver Resources","bodyText":"","tab":"LivingWith","section":"CaregiverResources","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000aGO1YAM","title":"Contact GARD","bodyText":"
\n
\n
Fill out our contact form to get help from one of our Information Specialists. 
\n
\n
","tab":"Home","section":"GARDServices","subSection":"ContactUsOverview","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000CYFAsAAP","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000aZ5hYAE","title":"Contacte con GARD","bodyText":"Complete nuestro formulario de contacto para recibir asistencia de uno de nuestros especialistas en información. ","tab":"Home","section":"GARDServices","subSection":"ContactUsOverview","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000CYFAsAAP","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000Hnh3YAC","title":"Cause Information In Development","bodyText":"GARD does not currently have information about the cause of this disease.","tab":"About","section":"Causes","subSection":"Intro","allPages":false,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":true,"language":"en_US"},{"id":"ka0SJ000000HndpYAC","title":"Cause:","bodyText":"This disease is caused by harmful bacteria.","tab":"About","section":"DiseaseAtAGlance","subSection":"Cause_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":["Rare Bacterial Infectious Disease"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HncDYAS","title":"Cause:","bodyText":"This disease is caused by a change in the genetic material (DNA).","tab":"About","section":"DiseaseAtAGlance","subSection":"Cause_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":["Genetics"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HnabYAC","title":"Cause:","bodyText":"This disease is caused by changes to the number or structure of a person’s chromosomes.","tab":"About","section":"DiseaseAtAGlance","subSection":"Cause_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":["Chromosomal Anomaly"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HnU9YAK","title":"What Causes This Disease?","bodyText":"","tab":"About","section":"Causes","subSection":"Intro","allPages":false,"displayTitle":true,"images":[],"tags":["Genetics","Mitochondrial","Chromosomal Anomaly","Infectious Disease","Inborn Errors of Metabolism","Infectious Embryofetopathy","Rare Viral Disease","Rare Bacterial Infectious Disease","Rare mycosis","Rare Parasitic Disease"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X30jYAC","title":"Symptom Intro - Null","bodyText":"This section is currently in development.","tab":"About","section":"Symptoms","subSection":"SymptomCard","allPages":false,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":true,"language":"en_US"},{"id":"ka0SJ000000X2z7YAC","title":"How can you overcome barriers to accessing care?","bodyText":"","tab":"LivingWith","section":"PatientResources","subSection":"Financial","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000Is8PYAS","title":"¿Cómo puede superar las barreras para acceder a la atención médica?","bodyText":"","tab":"LivingWith","section":"PatientResources","subSection":"Financial","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X2xWYAS","title":"Fungal Infection","bodyText":"This disease is caused by a fungus. Fungi, the plural of fungus, are primitive organisms that usually live in air, in soil, on plants, and in water. Some fungi are pathogenic, meaning they live on the human body and can cause disease. Inhaling fungal spores or coming into direct contact with fungal spores can cause infection. People with weakened immune systems are more likely to contract fungal infections. You can learn more about fungal infections from the National Library of Medicine.","tab":"About","section":"Causes","subSection":"CauseExplanation","allPages":false,"displayTitle":true,"order":3,"images":[],"tags":["Rare mycosis"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2UTYA0","title":"Body Systems","bodyText":"Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).","tab":"About","section":"Symptoms","subSection":"Default","allPages":false,"displayTitle":true,"images":[{"url":"0693d0000019xHmAAI","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2SrYAK","title":"About the Disease","bodyText":"Learn about symptoms, cause, support, and research for a rare disease.","tab":"All","section":"Breadcrumb","subSection":"About","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2RFYA0","title":"Getting a Diagnosis","bodyText":"Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.","tab":"All","section":"Breadcrumb","subSection":"Diagnosis","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000JLDdYAO","title":"Symptoms:","bodyText":"GARD does not currently have information about when this disease may start to appear.","tab":"About","section":"DiseaseAtAGlance","subSection":"AgeAtOnset_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":true,"language":"en_US"},{"id":"ka0SJ000000X2JBYA0","title":"Blood and Blood-Forming Tissue","bodyText":"The blood and blood-forming tissue includes plasma, red blood cells, white blood cells, platelets, and bone marrow. Common symptoms of problems with the blood or blood forming tissue include fatigue, weakness, shortness of breath, fever, abnormal bleeding, headache, or bruising easily. Diseases of the blood may be diagnosed and treated by a hematologist.","tab":"About","section":"Symptoms","allPages":false,"displayTitle":true,"images":[{"url":"069t000000FHdVHAA1","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"069t000000FHdVHAA1","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Blood and Blood Forming Tissue"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2ELYA0","title":"This information comes from the ${HPOLink}","bodyText":"","tab":"About","section":"Symptoms","subSection":"Resources","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X27tYAC","title":"Infection During Pregnancy or Childbirth","bodyText":"This disease is caused by an infection being passed from a pregnant person to their unborn fetus during pregnancy or to their newborn infant during childbirth. This is known as congenital infection. Often, when a pregnant person becomes infected by a harmful virus, bacteria, fungus, or parasite, their immune system protects their fetus from the infection. However, for this disease, the infection may be passed on through the placenta or through the birth canal and affect the fetus/baby.

A congenital infection may be difficult to diagnose, as the pregnant person and their fetus/baby may not immediately show any symptoms. However, testing for this disease is available to the mother during pregnancy and to the baby after birth. Health care providers often recommend all pregnant people and babies get testing for this disease even if they don't suspect they have this infection.

Learn about a Prenatal Panel for testing during pregnancy from the National Library of Medicine.

Learn about the TORCH screen for testing done after birth from the National Library of Medicine.","tab":"About","section":"Causes","subSection":"CauseExplanation","allPages":false,"displayTitle":true,"order":1,"images":[],"tags":["Infectious Embryofetopathy"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X26HYAS","title":"Cause:","bodyText":"This disease is caused by an infection being passed to a fetus during pregnancy or a newborn during childbirth.","tab":"About","section":"DiseaseAtAGlance","subSection":"Cause_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":["Infectious Embryofetopathy"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X24fYAC","title":"Cause:","bodyText":"This disease is caused by a fungus.","tab":"About","section":"DiseaseAtAGlance","subSection":"Cause_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":["Rare mycosis"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IsDFYA0","title":"¿Dónde puede obtener apoyo?","bodyText":"","tab":"LivingWith","section":"PatientResources","subSection":"DayToDay","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X233YAC","title":"Where can you find support?","bodyText":"","tab":"LivingWith","section":"PatientResources","subSection":"DayToDay","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X46TYAS","title":"Organizations:","bodyText":"Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.","tab":"About","section":"DiseaseAtAGlance","subSection":"PAG_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ0000004oO1YAI","title":"Apoyo en situaciones de crisis","bodyText":"Cuando se vive con una enfermedad rara, resulta fundamental conocer los recursos disponibles en situaciones de crisis. Las siguientes organizaciones pueden brindar asistencia directa o ayudar a identificar otros recursos, tanto de emergencia como no urgentes. Las organizaciones y recursos se presentan únicamente con fines informativos. La inclusión en esta lista no constituye una recomendación ni implica un respaldo por parte de GARD ni de los NIH.","tab":"LivingWith","section":"Resources","subSection":"Parent","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X1oXYAS","title":"Crisis Support","bodyText":"When living with a rare disease, it can be critical to know which resources are available in a crisis. The following organizations can offer assistance directly or can help find other emergency and non-emergency resources. The organizations and resources are listed for information purposes only. Inclusion on this list does not reflect an endorsement by GARD or the NIH.","tab":"LivingWith","section":"Resources","subSection":"Parent","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000Ht89YAC","title":"Summary","bodyText":"GARD aims to provide information that you can use at any stage of your diagnostic journey. For this disease, GARD does not currently have the valuable information we strive to provide to the rare disease community on our website. However, our Information Specialists are available to help you find the information and resources you may need. Please contact GARD for individualized support on your diagnostic journey.","tab":"About","section":"DiseaseAtAGlance","subSection":"Summary","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":true,"language":"en_US"},{"id":"ka0SJ000000OCfxYAG","title":"¿Dónde puede encontrar apoyo en una crisis?","bodyText":"

No necesita enfrentar la vida con una enfermedad rara solo. Los siguientes recursos pueden ayudarle a encontrar apoyo para los diversos desafíos que pueda enfrentar.

Líneas de Ayuda

\n\n

Asistencia en Salud Mental

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Helplines\n\nMental Health Assistance\n\n","tab":"ContactUs","section":"Resources","subSection":"Crisis","allPages":false,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X1yDYAS","title":"Participate in Research","bodyText":"","tab":"About","section":"Research","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X1wbYAC","title":"Disease Information","bodyText":"","tab":"About","section":"DiseaseAtAGlance","subSection":"SectionHeader","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HsdVYAS","title":"Learn more about GARD","bodyText":"https://rarediseases.info.nih.gov/about","tab":"Home","section":"AboutGARD","subSection":"AboutGARDButton","allPages":false,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IrPFYA0","title":"Obtenga más información sobre GARD","bodyText":"https://rarediseases.info.nih.gov/espanol/acerca-de","tab":"Home","section":"AboutGARD","subSection":"AboutGARDButton","allPages":false,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000Hsf7YAC","title":"Browse by Disease","bodyText":"https://rarediseases.info.nih.gov/diseases?category=&page=1&letter=&search=","tab":"Home","section":"GARDServices","subSection":"BrowseDiseaseButton","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IaY5YAK","title":"Búsqueda de enfermedades","bodyText":"https://rarediseases.info.nih.gov/espanol/enfermedades?category=&page=1&letter=&search=","tab":"Home","section":"GARDServices","subSection":"BrowseDiseaseButton","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HsyTYAS","title":"Complete Patient Org. Form","bodyText":"https://contact.rarediseases.info.nih.gov/Gard/s/patient-organization?language=en_US","tab":"ContactUs","section":"ContactCenter","subSection":"RequestFormButton","allPages":false,"displayTitle":true,"order":7,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IrXJYA0","title":"Formulario para Organizaciones de Pacientes","bodyText":"https://contact.rarediseases.info.nih.gov/Gard/s/patient-organization?language=es_MX","tab":"ContactUs","section":"ContactCenter","subSection":"RequestFormButton","allPages":false,"displayTitle":true,"order":7,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000IrU5YAK","title":"Consulte con un Especialista en Información","bodyText":"https://contact.rarediseases.info.nih.gov/Gard/s/?language=es_MX","tab":"Home","section":"ContactUs","subSection":"HomeContactFormButton","allPages":false,"displayTitle":true,"order":5,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HsvFYAS","title":"Ask a GARD Specialist","bodyText":"https://contact.rarediseases.info.nih.gov/Gard/s/?language=en_US","tab":"Home","section":"ContactUs","subSection":"HomeContactFormButton","allPages":false,"displayTitle":true,"order":5,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2pRYAS","title":"Organizations that maintain expert or expert center lists - All rare diseases","bodyText":"You can ask your care providers for help finding an expert or use directory tools to search for experts near you. 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Por favor, tenga en cuenta que los nombres de las enfermedades sólo están disponibles en inglés.","tab":"Browse","section":"Header","allPages":false,"displayTitle":true,"images":[{"url":"0693d000009xZpsAAE","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000AOwpCAAT","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X2MPYA0","title":"Browse by Disease","bodyText":"Explore GARD's list of rare diseases. Filter by category or search by disease name, acronym, or synonym. Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH. ","tab":"Browse","section":"Header","allPages":false,"displayTitle":true,"images":[{"url":"0693d000009xZpsAAE","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"},{"url":"0693d00000AOwpCAAT","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HsSDYA0","title":"Autosomal Dominant","bodyText":"Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.

People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.

Learn more about inheritance patterns from the National Library of Medicine (NLM).","tab":"About","section":"Causes","subSection":"Transmission","subSubsection":"AD","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000BiO76AAF","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Autosomal dominant"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000HsNNYA0","title":"Autosomal Recessive","bodyText":"Autosomal means the gene involved is located on one of the numbered chromosomes. Recessive means that a child must inherit two copies of the mutated gene, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the genetic mutation. A carrier usually doesn't show any symptoms of the disease.

If both biological parents are carriers, there is a 25% their child inherits both copies of the mutated gene and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the mutated gene and is a carrier.

Learn more about inheritance patterns from the National Library of Medicine (NLM).","tab":"About","section":"Causes","subSection":"Transmission","subSubsection":"AR","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000BiOqNAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["Autosomal recessive"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2PdYAK","title":"X-Linked","bodyText":"X-linked inheritance means the genetic mutation is located on the X chromosome, one of the sex chromosomes. The male sex chromosome pair consists of one X and one Y chromosome (XY). The female sex chromosome pair consists of two X chromosomes (XX). Because males have just one X chromosome, it takes only one copy of the mutated gene to cause the disease. Females that have one copy of the mutated gene may have symptoms similar to those experienced by affected males, but usually have less severe symptoms, or no symptoms at all.

Female parents with one X-linked mutated gene have a 50% chance of passing on the mutation to each of their biological children. Male parents with an X-linked mutated gene will pass on the mutation to all their female children but cannot pass the mutation on to their male children.

Learn more about inheritance patterns from the National Library of Medicine (NLM).","tab":"About","section":"Causes","subSection":"Transmission","subSubsection":"XLinked","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000AoYlYAAV","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":["X-linked","X-linked dominant","X-linked recessive"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2O1YAK","title":"Newborn Screening [Info Icon Text]","bodyText":"Newborn screening tests may detect diseases before symptoms develop. If test results are abnormal, follow up with your medical team for additional testing and treatment options.","tab":"About","section":"DiseaseAtAGlance","subSection":"NewbornScreen_Snippet","subSubsection":"NewbornScreenDesc","allPages":false,"displayTitle":false,"images":[],"tags":["Newborn Screening"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2ZJYA0","title":"Newborn Screening:","bodyText":"This disease may be detected through newborn screening tests performed soon after birth.","tab":"About","section":"DiseaseAtAGlance","subSection":"NewbornScreen_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":["Newborn Screening"],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000IaRdYAK","title":"Establezca conexión con organizaciones de pacientes","bodyText":"Establezca conexión con otros pacientes y sus familias con el fin de construir una comunidad de apoyo. Infórmese sobre los tratamientos más recientes, los centros de atención disponibles y las oportunidades para participar en investigaciones durante su proceso diagnóstico.
","tab":"Home","section":"GARDServices","subSection":"FindSupport","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000CYFRTAA5","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HsbtYAC","title":"Connect with Patient Organizations","bodyText":"Connect with other patients and families to build a community of support, learn about the latest treatments, care centers, and opportunities to participate in research.","tab":"Home","section":"GARDServices","subSection":"FindSupport","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000CYFRTAA5","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka03d0000001zNYAAY","title":"Búsqueda de enfermedades","bodyText":"Explore nuestra base de datos para encontrar información sobre miles de enfermedades raras.
","tab":"Home","section":"GARDServices","subSection":"BrowseDiseases","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000CYDDxAAP","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000HsX3YAK","title":"Browse by Disease","bodyText":"Search our database to find information about thousands of rare diseases.","tab":"Home","section":"GARDServices","subSection":"BrowseDiseases","allPages":false,"displayTitle":true,"images":[{"url":"0693d00000CYDDxAAP","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000Ht05YAC","title":"Search ClinicalTrials.gov Intro","bodyText":"ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.","tab":"About","section":"Research","subSection":"ClinicalTrialsGov","subSubsection":"Intro","allPages":true,"displayTitle":false,"images":[{"url":"0693d000009XacbAAC","altText":"","altTextPayload":{"en_US":"","es":""},"desktopOrMobile":"unknown"}],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000aHGrYAM","title":"Política de privacidad","bodyText":"Proteger su privacidad es importante para el Centro Nacional para el Avance de las Ciencias Traslacionales (NCATS). Esta página describe nuestras políticas de privacidad y seguridad según se aplican al sitio web de GARD. El NCATS no recopila ninguna información de identificación personal (PII) sobre usted durante su visita a este sitio a menos que elija proporcionarla. Sin embargo, el NCATS recopila algunos datos sobre su visita para comprender mejor cómo el público usa el sitio web de GARD y cómo hacerlo más útil. El NCATS recopila información de los visitantes que leen, navegan y/o descargan información de este sitio. El NCATS nunca recopila información para mercadeo comercial o cualquier propósito que no esté relacionado con la misión y los objetivos del NCATS. Por favor contáctenos si tiene alguna pregunta sobre nuestras políticas.

Tipos de información recopilada
Cuando navega por cualquier sitio web, se puede recopilar cierta información sobre su visita. El NCATS recopila y almacena temporalmente el siguiente tipo de información sobre su visita:

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El NCATS utiliza esta información para medir la cantidad de visitantes a nuestro sitio y sus diversas secciones y para ayudar a que nuestro sitio sea más útil para los visitantes.

Consentimiento
El sitio le permite enviar preguntas, solicitar información o participar y compartir información sobre programas/estudios sobre enfermedades genéticas o raras. Para responder a su solicitud, usted acepta voluntariamente compartir su información de contacto en forma de nombre, dirección de correo electrónico o número de teléfono.

Tenga en cuenta que al visitar este sitio, acepta las prácticas descritas en esta declaración de privacidad y da su consentimiento para que recopilemos y usemos su información descrita en este aviso. Si decidimos cambiar nuestra política de privacidad, publicaremos esos cambios en esta página, para que siempre sepa qué información recopilamos, cómo la usamos y en qué circunstancias la divulgamos.

Cómo recopila información GARD
Este sitio web utiliza el software de medición Google Analytics para recopilar la información que figura en la lista de viñetas bajo Tipos de información recopilada. Google Analytics recopila información de forma automática y continua. El NCATS realiza análisis e informes sobre los datos agregados de Google Analytics. Los informes solo están disponibles para los administradores de este sitio web y otro personal designado que requiera esta información para desempeñar sus funciones. El NCATS conserva los datos de Google Analytics durante el tiempo que sea necesario para respaldar la misión de este sitio web.

Además, los usuarios pueden comunicarse con el centro de contacto de GARD con solicitudes de apoyo individualizado para encontrar y comprender la información de salud. La información de contacto y las preguntas de un usuario pueden almacenarse temporalmente para permitir que el personal del centro de contacto responda a una consulta y se eliminan periódicamente.

Cómo usa GARD las cookies
El memorándum M-10-22 Guidance for Online Use of Web Measurement and Customization Technologie [Orientaciones para el uso en línea de tecnologías de medición y personalización web] de la Oficina de Administración y Presupuesto (OMB) permite a las agencias federales usar cookies persistentes y de sesión.

Cuando visita cualquier sitio web, su servidor puede generar un fragmento de texto conocido como \"cookie\" para colocar en su computadora. La cookie permite que el servidor “recuerde” información específica sobre su visita mientras está conectado.

La cookie le facilita el uso de las características dinámicas de las páginas web. Las solicitudes para enviar cookies desde las páginas web de GARD están diseñadas para recopilar información solo sobre la sesión de su navegador; no recopilan información personal sobre usted.

Existen dos tipos de cookies: de sesión única (temporales) y multisesión (persistentes). Las cookies temporales sólo duran mientras el navegador está abierto. Una vez que cierre el navegador, la cookie desaparece. Las cookies persistentes se almacenan en su computadora durante períodos más largos.

Cookies de sesión: utilizamos cookies de sesión con fines técnicos, como para permitir una mejor navegación a través de nuestro sitio. Estas cookies permiten que nuestro servidor sepa que continúa visitando nuestro sitio. La guía OMB memo 10-22 define el uso de cookies de sesión como \"Nivel de uso 1: sesión única\". La política dice: \"Este nivel abarca cualquier uso de tecnologías de personalización y medición web de sesión única.\"

Cookies persistentes: utilizamos cookies persistentes para permitir que Google Analytics diferencie entre los visitantes nuevos y los que regresan al sitio web de GARD. Las cookies persistentes permanecen en su computadora entre visitas a este sitio web hasta que caduquen. La guía OMB memo 10-22 define el uso de cookies persistentes como \"Nivel de uso 2: multisesión sin información de identificación personal (PII)\". La política dice: “Este nivel abarca cualquier uso de tecnologías de medición y personalización web multisesión cuando no se recopila PII.\"

Excluir o deshabilitar cookies: si no desea que se coloquen cookies persistentes o de sesión en su computadora, puede deshabilitarlos usando su navegador web. Si opta por no recibir cookies, usted todavía puede acceder a la información y los recursos en el sitio web de GARD.

Las instrucciones para deshabilitar las cookies en los navegadores más populares se encuentran en https://www.usa.gov/optout-instructions. Nota: esto desactivará las cookies de todas las fuentes, no solo las del sitio web de GARD.

¿Cómo se protege la información personal?
Cuando se nos envían consultas, almacenamos la pregunta y la dirección de correo electrónico para que podamos responder. Las consultas pueden ser vistas por varios especialistas en información de GARD que son responsables de responder las preguntas del público. La dirección de correo electrónico y toda la información de identificación personal se eliminan de la base de datos después de 90 días. Si el especialista en información de GARD que recibe el mensaje no sabe la respuesta a su pregunta, es posible que su mensaje se reenvíe a otro empleado de los NIH que sepa más sobre el tema.

Cuando llama a GARD, su llamada se enruta a un especialista en información a través de un proveedor externo llamado 8x8. Si deja un mensaje de correo de voz, mantenemos la grabación solo el tiempo que sea necesario para responder a su pregunta. El personal de GARD no recopila ni guarda ninguna información de identificación personal desde 8x8 o cualquier función administrada por un proveedor externo.

En ocasiones, GARD puede realizar o proporcionar datos no identificados para estudios sobre los tipos de preguntas que se nos envían y las respuestas que damos. Estos estudios pueden implicar la codificación de las consultas que se han depurado de toda la información de identificación personal para ver si hay problemas recurrentes que los usuarios tienen para encontrar información.

Divulgación
GARD no divulga, entrega, vende ni transfiere ninguna información personal sobre nuestros visitantes, a menos que sea exigido para cumplimiento de la ley o por un estatuto de ley.

Seguridad del sitio
Este sitio cuenta con el apoyo del Gobierno de los Estados Unidos. Está protegido por varias disposiciones del Título 18 del Código de los EE. UU. Las violaciones del Título 18 están sujetas a enjuiciamiento penal en un tribunal federal.

Por motivos de seguridad del sitio y para garantizar que este servicio permanezca disponible para todos los usuarios, utilizamos programas de software para monitorear el tráfico para identificar intentos no autorizados de cargar o cambiar información, o de otro modo causar daño. En caso de aplicación de la ley autorizada, investigaciones, y de conformidad con cualquier proceso legal requerido, la información de estas fuentes puede utilizarse para ayudar a identificar a un individuo.

Contáctenos
Para más información sobre nuestra política de privacidad, por favor consulte la declaración de privacidad de los NIH [en inglés]  y la declaración de privacidad del NCATS [en inglés] . Si tiene alguna pregunta sobre la política de privacidad de los NIH, comuníquese con el Oficial Superior de Privacidad de los NIH por correo electrónico a privacy@mail.nih.gov o llamando al 301-451-3426. Puede utilizar el formulario de contacto de GARD para otras solicitudes relacionadas con enfermedades raras 

","tab":"PrivacyPolicy","allPages":false,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000aEcLYAU","title":"Privacy Policy","bodyText":"Protecting your privacy is important to NCATS. This page outlines our privacy and security policies as they apply to the GARD website. NCATS does not collect any personally identifiable information (PII) about you during your visit to this site unless you choose to provide it. NCATS does, however, collect some data about your visit to better understand how the public uses the GARD website and how to make it more helpful. NCATS collects information from visitors who read, browse and/or download information from this site. NCATS never collects information for commercial marketing or any purpose unrelated to the Center’s mission and goals. Please contact us if you have any questions about our policies.

Types of Information Collected
When you browse through any website, certain information about your visit can be collected. NCATS automatically collects and temporarily stores the following type of information about your visit: 

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NCATS uses this information to measure the number of visitors to our site and its various sections and to help make our site more useful to visitors.

Consent
The site allows you to submit questions, request information, or participate in and share information about programs/studies regarding genetic or rare diseases. To respond to your request, you consent to share your contact information in the form of a name, email address, or phone number.

Please note that by visiting this site, you accept the practices described in this Privacy Statement and consent to our collection and use of your information described in this notice. If we decide to change our privacy policy, we will post those changes on this page, so you are always aware of what information we collect, how we use it, and under what circumstance we disclosed it.

How GARD Collects Information
This website uses Google Analytics measurement software to collect the information in the bulleted list under Types of Information Collected. Google Analytics collects information automatically and continuously. NCATS conducts analyses and reports on the aggregated data from Google Analytics. The reports are only available to this website’s managers and other designated staff who require this information to perform their duties. NCATS retains the data from Google Analytics as long as needed to support the mission of this website.

In addition, users may contact the GARD contact center with requests for individualized support in finding and understanding health information. A user’s contact information and questions may be stored temporarily to enable contact center staff to reply to an inquiry and are periodically deleted.

How GARD Uses Cookies
The Office of Management and Budget (OMB) Memo M-10-22, Guidance of Online Use of Web Measurement and Customization Technologies allows Federal agencies to use session and persistent cookies.

When you visit any website, its server may generate a piece of text known as a “cookie” to place on your computer. The cookie allows the server to “remember” specific information about your visit while you are connected.

The cookie makes it easier for you to use the dynamic features of web pages. Requests to send cookies from GARD's webpages are designed to collect information about your browser session only; they do not collect personal information about you.

There are two types of cookies, single session (temporary) and multi-session (persistent). Session cookies last only as long as your Web browser is open. Once you close your browser, the cookie disappears. Persistent cookies are stored on your computer for longer periods.

Session Cookies: We use session cookies for technical purposes, such as to enable better navigation through our site. These cookies let our server know that you are continuing a visit to our site. The OMB memo 10-22 guidance defines the use of session cookies as \"Usage Tier 1—Single Session.” The policy says, “This tier encompasses any use of single session Web measurement and customization technologies.”

Persistent Cookies: We use persistent cookies to enable Google Analytics to differentiate between new and returning visitors to the GARD website. Persistent cookies remain on your computer between visits to this website until they expire. The OMB memo 10-22 guidance defines the use of persistent cookies as \"Usage Tier 2—Multi-session without Personally Identifiable Information (PII).” The policy says, “This tier encompasses any use of multi-session Web measurement and customization technologies when no PII is collected.”

Opt-Out or Disable Cookies: If you do not wish to have session or persistent cookies placed on your computer, you can disable them using your Web browser. If you opt-out of cookies, you can still access the information and resources on the GARD website.

Instructions to disable cookies in the most popular browsers are located at https://www.usa.gov/optout-instructions. Note: This will disable cookies from all sources, not just those from GARD's website.

How is Personal Information Protected?
When inquiries are sent to us, we store the question and the email address so that we can respond. Inquiries may be seen by several GARD Information Specialists who are responsible for responding to questions from the public. The email address and all personally identifiable information are removed from the database after 90 days. If the GARD Information Specialist who receives the message does not know the answer to your question, your message may be forwarded to another NIH employee who knows more about the topic.

On occasion, GARD may conduct or provide de-identified data for studies on the types of questions sent to us and the answers we give. These studies may involve coding the queries that have been purged of all personally identifiable information to see if there are recurring problems that users have in finding information.

Disclosure
GARD does not disclose, give, sell, or transfer any personal information about our visitors unless required by law enforcement or by statute.

Site Security
This site is supported by the U.S. Government. It is protected by various provisions of Title 18, U.S. Code. Violations of Title 18 are subject to criminal prosecution in federal court.

For site security purposes and to ensure that this service remains available to all users, we use software programs to monitor traffic to identify unauthorized attempts to upload or change information, or otherwise cause damage. In the event of authorized law enforcement investigations, and pursuant to any required legal process, information from these sources may be used to help identify an individual.

Contact Us
For additional information on our privacy policy, please see the NIH privacy statement and the NCATS privacy statement. If you have questions about NIH privacy policy, please contact the NIH Senior Official for Privacy at privacy@mail.nih.gov or call 301-451-3426. You can use the GARD Contact Form for other requests regarding rare diseases.

","tab":"PrivacyPolicy","allPages":false,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2e9YAC","title":"Cause:","bodyText":"This disease has more than one possible cause.","tab":"About","section":"DiseaseAtAGlance","subSection":"Cause_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2cXYAS","title":"Cause:","bodyText":"GARD does not currently have information about the cause of this disease.","tab":"About","section":"DiseaseAtAGlance","subSection":"Cause_Snippet","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":true,"language":"en_US"},{"id":"ka0SJ000000IZYnYAO","title":"Preguntas frecuentes sobre el sitio web de GARD","bodyText":"","tab":"About","section":"Policies","subSection":"Website","allPages":false,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"},{"id":"ka0SJ000000X2flYAC","title":"GARD Website FAQs","bodyText":"","tab":"About","section":"Policies","subSection":"Website","allPages":false,"displayTitle":true,"order":1,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2sfYAC","title":"When Do Symptoms of ${DiseaseName} Begin?","bodyText":"This information is not currently available.","tab":"About","section":"DiseaseAtAGlance","subSection":"AgeOnset","subSubsection":"Parent","allPages":false,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":true,"language":"en_US"},{"id":"ka0SJ000000X2r3YAC","title":"When Do Symptoms of ${DiseaseName} Begin?","bodyText":"Symptoms of this disease may start to appear ${AgeAtOnsetSnippetText}.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.","tab":"About","section":"DiseaseAtAGlance","subSection":"AgeOnset","subSubsection":"Parent","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2izYAC","title":"About ${DiseaseName}","bodyText":"Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:","tab":"About","section":"DiseaseAtAGlance","subSection":"Intro_Snippet","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2uHYAS","title":"Symptoms:","bodyText":"May start to appear ${AgeAtOnsetSnippetText}.","tab":"About","section":"DiseaseAtAGlance","subSection":"AgeAtOnset_Snippet","allPages":true,"displayTitle":true,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2vtYAC","title":"AgeAtOnset Infographic Description","bodyText":"Symptoms may start to appear ${AgeAtOnsetSnippetText}.","tab":"About","section":"DiseaseAtAGlance","subSection":"AgeOnset","subSubsection":"InfographDescription","allPages":false,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2kbYAC","title":"Epidemiology U.S. info","bodyText":"The range of people who may have this disease is an estimate and is based on the available incidence/prevalence data for this disease and the population in the U.S.","tab":"About","section":"DiseaseAtAGlance","subSection":"Epidemiology","subSubsection":"USAInfo","allPages":true,"displayTitle":false,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000X2npYAC","title":"Disclaimer","bodyText":"Any materials that GARD provides are for information purposes only and do not represent endorsement by or an official position of NCATS, the NIH, or any Federal agency. Advice on the treatment or care of a patient should be obtained through consultation with a physician who has examined that patient and is familiar with that patient's medical history. The information, data, opinions, and statements linked to from this website are not necessarily those of NCATS, NIH, or any other Federal agency and should not be interpreted, acted on, or represented as such.

The U.S. Government, NIH, and/or NCATS and their employees and contractors do not make any warranty, express or implied, including the warranties of merchantability and fitness for a particular purpose with respect to documents available from this website. In addition, the U.S. Government, NIH, and/or NCATS and their employees and contractors assume no legal liability for the accuracy, completeness, or usefulness of any information, apparatus, product, or process disclosed herein and do not represent that use of such information, apparatus, product, or process would not infringe on privately owned rights.","tab":"Disclaimer","allPages":false,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"en_US"},{"id":"ka0SJ000000Is1xYAC","title":"Aviso Legal","bodyText":"Todos los materiales que proporciona GARD son solo para fines informativos y no representan el respaldo ni una posición oficial del NCATS, los NIH o cualquier agencia federal. Se debe obtener asesoramiento sobre el tratamiento o la atención de un paciente mediante la consulta con un médico que haya examinado a ese paciente y esté familiarizado con su historial médico. La información, datos, opiniones y las declaraciones vinculadas desde este sitio web no son necesariamente las del NCATS, los NIH o cualquier otra agencia federal y no deben interpretarse, actuarse o representarse como tales.

El Gobierno de EE. UU., los NIH o el NCATS y sus empleados y contratistas no ofrecen ninguna garantía, expresa o implícita, incluidas las garantías de comerciabilidad e idoneidad para un propósito particular con respecto a los documentos disponibles en este sitio web. Además, el Gobierno de EE. UU., los NIH o el NCATS y sus empleados y contratistas no asumen ninguna responsabilidad legal por la exactitud, integridad o utilidad de cualquier información, aparato, producto o proceso divulgado en este documento y no declaran que el uso de tal información, aparato, producto o proceso no infrinja los derechos de propiedad privada.","tab":"Disclaimer","allPages":false,"displayTitle":true,"order":2,"images":[],"tags":[],"accounts":[],"sources":[],"nullVersion":false,"language":"es"}]