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Familial dysautonomia


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Other Names:
Dysautonomia, familial; FD; Hereditary sensory neuropathy type 3; Dysautonomia, familial; FD; Hereditary sensory neuropathy type 3; Hereditary sensory and autonomic neuropathy 3; HSAN 3; HSN 3; Riley Day syndrome See More
Categories:
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases; Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases; Skin Diseases See More
This disease is grouped under:
Hereditary sensory and autonomic neuropathy; Primary orthostatic hypotension

Summary Summary


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Familial dysautonomia (FD) affects nerve cells in the autonomic nervous system, the part of the nervous system that controls involuntary functions like breathing and digestion. The symptoms of FD are present at birth and include difficulty swallowing, and poor control of blood pressure, body temperature and breathing. Other symptoms may include the inability to make tears or feel pain, vomiting episodes, frequent pneumonia, and difficulty walking. Over time, the symptoms of FD tend to get worse and are often life-threatening. FD is caused by genetic variations in the ELP1 gene, and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, and the results of genetic testing. Treatment is focused on managing the symptoms.[1][2][3]
Last updated: 9/16/2020

Symptoms Symptoms


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The following list includes the most common signs and symptoms in people with familial dysautonomia. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms of familial dysautonomia include:[1][3]
  • Difficulty swallowing and feeding
  • Low muscle tone (hypotonia)
  • Absence of tears
  • Poor control of breathing, especially during sleep
  • Trouble regulating blood pressure and body temperature
  • Insensitivity to pain
  • Unsteady gait
  • Vomiting episodes
  • Frequent pneumonia
Symptoms of familial dysautonomia are present at birth. Over time, symptoms tend to get worse. Some people with FD develop curvature of the spine (scoliosis), kidney problems and lung damage. FD is considered a severe condition, and often results in a shortened lifespan.[1][3][4]
Last updated: 9/16/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 58 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal pupil morphology
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ]
0000615
Alacrima
Absence of tears in the eyes
Absent tear secretion
[ more ]
0000522
EMG abnormality 0003457
Feeding difficulties in infancy 0008872
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
0001510
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ]
0000975
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
0000966
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ]
0001265
Impaired pain sensation
Decreased pain sensation
0007328
Malignant hyperthermia 0002047
Orthostatic hypotension
Decrease in blood pressure upon standing up
0001278
30%-79% of people have these symptoms
Ataxia 0001251
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
0000708
Corneal erosion
Damage to outer layer of the cornea of the eye
0200020
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
0001288
Hypertension 0000822
Muscular hypotonia
Low or weak muscle tone
0001252
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
0002205
Scoliosis 0002650
5%-29% of people have these symptoms
Abnormal pleura morphology 0002103
Abnormality of the peritoneum 0002585
Acrocyanosis
Persistent blue color of hands, feet, or parts of face
0001063
Avascular necrosis
Death of bone due to decreased blood supply
0010885
Corneal opacity 0007957
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ]
0002020
Glomerulopathy 0100820
Heterochromia iridis
Different colored eyes
0001100
Hyponatremia
Low blood sodium levels
0002902
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
0000545
Optic atrophy 0000648
Osteolysis
Breakdown of bone
0002797
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
0002757
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ]
0000083
Seizure 0001250
Tachycardia
Fast heart rate
Heart racing
Racing heart
[ more ]
0001649
Percent of people who have these symptoms is not available through HPO
Abnormal renal physiology
Abnormal kidney function
Kidney function issue
[ more ]
0012211
Autosomal recessive inheritance 0000007
Congenital onset
Symptoms present at birth
0003577
Constipation 0002019
Corneal ulceration 0012804
Decreased corneal reflex 0008000
Decreased number of large peripheral myelinated nerve fibers 0003387
Decreased sensitivity to hypoxemia 0005947
Diarrhea
Watery stool
0002014
Elevated serum creatinine
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine
[ more ]
0003259
Emotional lability
Emotional instability
0000712
Episodic hyperhidrosis
Sporadic excessive sweating
0001069
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Glomerular sclerosis 0000096
Hypogeusia
Decreased taste
Decreased taste sensation
[ more ]
0000224
Incoordination
Difficulties in coordination
Incoordination of limb movements
Limb incoordination
[ more ]
0002311
Increased blood urea nitrogen 0003138
Neuropathic arthropathy 0002821
Progressive
Worsens with time
0003676
Recurrent corneal erosions
Recurrent breakdown of clear protective layer of eye
0000495
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ]
0001954
Recurrent infections due to aspiration 0004891
Vomiting
Throwing up
0002013
Showing of 58 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021

Cause Cause


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Familial dysautonomia is caused by the ELP1 gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[3]
Last updated: 9/16/2020

Inheritance Inheritance


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Familial dysautonomia is inherited in an autosomal recessive pattern.[3] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.
  
People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers.  Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.
Last updated: 9/16/2020

Diagnosis Diagnosis


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Familial dysautonomia is diagnosed based on the symptoms, clinical exam, and confirmed by the results of genetic testing.[2][3]
Last updated: 9/16/2020

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment


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Treatment for familial dysautonomia (FD) is focused on managing the symptoms. Treatment options include medications to help manage blood pressure, breathing problems, and vomiting episodes. Some people with FD need a feeding tube due to swallowing problems. In addition, in some people, surgery is necessary to correct curvature of the spine.[1][4]

Specialists involved in the care of someone with familial dysautonomia may include:
  • Neurologist
  • Gastroenterologist
  • Otolaryngologist (ear, nose, and throat doctor)
  • Pulmonologist
  • Ophthalmologist
  • Sleep specialist
Last updated: 9/16/2020

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Statistics Statistics


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Familial dysautonomia mainly impacts people of eastern European (Ashkenazi) Jewish descent. It has been estimated that FD occurs in about one in 10,000 live births in North America. The incidence of FD has been decreasing over time due to prenatal screening and testing.[1]
Last updated: 9/16/2020
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN). Normal or increased sweating easily distinguishes familial dysautonomia (FD) from HSAN4, also hypertensive crises are unique to FD and not present in other HSANs. Deep tendon reflexes are absent in FD.
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Familial dysautonomia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
  • The RDCRN - Autonomic Disorders Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with many types of autonomic disorders through research.

Patient Registry

  • The Inherited Neuropathies Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with Charcot Marie Tooth disease through research. The Inherited Neuropathies Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Dysautonomia Information Network
    PO Box 10057
    Swanzey, NH 03446, NH 03446
    E-mail: webmaster@dinet.org
    Website: https://www.dinet.org/
  • Dysautonomia International
    P.O. Box 596
    East Moriches, NY 11940
    E-mail: info@DysautonomiaInternational.org
    Website: http://www.dysautonomiainternational.org/
  • Jewish Genetic Disease Consortium (JGDC)
    450 West End Ave., 6A
    New York, NY 10024
    Toll-free: 866-370-GENE (4363)
    Telephone: 855-642-6900
    Fax: 212-873-7892
    E-mail: info@jewishgeneticdiseases.org
    Website: http://www.JewishGeneticDiseases.org
  • The Foundation for Peripheral Neuropathy
    485 Half Day Road
    Suite 350
    Buffalo Grove, IL 60089
    Telephone: +1-877-883-9942
    Fax: +1-847-883-9960
    E-mail: https://www.foundationforpn.org/contact-us/
    Website: https://www.foundationforpn.org
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • Genetics Home Reference (GHR) contains information on Familial dysautonomia. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial dysautonomia. Click on the link to view a sample search on this topic.

Videos/Presentations

  • A Positive Exposure program called FRAME has an educational film about Familial dysautonomia that was created to change how medical information is presented to healthcare professionals. FRAME stands for Faces Redefining the Art of Medical Education. Positive Exposure is an organization that uses photography, film, and narrative to transform public perceptions of people living with genetic, physical, intellectual, and behavioral differences.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Norcliffe-Kaufmann L, Slaugenhaupt SA, Kaufmann H. Familial dysautonomia: History, genotype, phenotype and translational research. Prog Neurobiol. 2017; 152:131-148. https://pubmed.ncbi.nlm.nih.gov/27317387.
  2. Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. Appl Clin Genet. 2017; 10:95-103. https://pubmed.ncbi.nlm.nih.gov/29290691.
  3. Shohat M, Weisz Hubshan M. Familial Dysautonomia. GeneReviews. Updated Dec 18, 2014; https://pubmed.ncbi.nlm.nih.gov/20301359.
  4. Kazachkov M, Palma JA, Norcliffe-Kaufmann L, et al. Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations. Respir Med. 2018; 141:37-46. https://pubmed.ncbi.nlm.nih.gov/30053970.
Do you know of a review article? We want to hear from you.
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