Table of ContentsView AllTable of ContentsSymptomsSurvivalCausesDiagnosisTreatmentCoping
Table of ContentsView All
View All
Table of Contents
Symptoms
Survival
Causes
Diagnosis
Treatment
Coping
Familial dysautonomia(FD) is a rare inherited condition mainly affecting people of Ashkenazi Jewish descent. FD causes the disruption of theautonomic nervous system(which regulates involuntary functions like breathing, digestion, and heart rate) and thesensory nervous system(which regulates sensations such as taste, pain, heat, and cold).
Symptoms include poor growth, abnormal heart rhythms, vomiting episodes, frequent lung infections, and eye problems.
FD cannot be cured but can be managed to ease symptoms and avoid disease complications. Complications of FD are especially serious in infants and children who have an increased risk of sudden expected death due to recurrent pneumonia, cardiac arrest, or other complications.
This article describes the symptoms and causes of familial dysautonomia, including how it is passed from parent to child. It also explains how FD is diagnosed and treated.
Judith Haeusler / Getty Images
What Are the Symptoms of Familial Dysautonomia?
Familial dysautonomia is a debilitating genetic disorder that can cause many diverse symptoms. The symptoms typically appear during infancy, manifesting in low muscle tone, a lack of tears, and difficulty maintaining body temperature.
Other symptoms of FD include:
Many people with FD have normal intelligence, but some have learning issues such as attention deficit hyperactivity disorder (ADHD).
What Is an Autonomic Crisis?About 40% of people with FD experience periodic worsening of symptoms, called an “autonomic crisis.” During a crisis, a person might experience multiple symptoms such as excessive sweating, reddish blotting of the skin, rapid changes in blood pressure and heart rate, and vomiting.
What Is an Autonomic Crisis?
About 40% of people with FD experience periodic worsening of symptoms, called an “autonomic crisis.” During a crisis, a person might experience multiple symptoms such as excessive sweating, reddish blotting of the skin, rapid changes in blood pressure and heart rate, and vomiting.
Complications and Risk of Death
What is the life expectancy of someone with familial dysautonomia?With improved medical care, survival rates for people with FD have been increasing with 50% living to age 30. Some people with FD have been known to survive well into their 70s.
What is the life expectancy of someone with familial dysautonomia?
With improved medical care, survival rates for people with FD have been increasing with 50% living to age 30. Some people with FD have been known to survive well into their 70s.
What Causes Familial Dysautonomia?
Familial dysautonomia is an inherited disorder that affects one in every 3,700 people of Ashkenazi Jewish ancestry.
FD belongs to a group of disorders called hereditary sensory and autonomic neuropathies (HSANs) that can affect both the sensory and autonomic nervous systems.
Familial dysautonomia is inherited in anautosomal recessivepattern. That means that a person needs to receive theELP1gene mutations from both parents, not just one, to get the disorder.
People who carry only one copy of the gene don’t have any symptoms and are “carriers” who can pass it to their child when they conceive. If a couple has had one child with FD, there is a 25% chance that another child of theirs would also have the disease.
How Familial Dysautonomia Is Diagnosed
The diagnosis of FD starts with a review of your medical history and family history as well as a thorough physical exam.
Some of the key clues a healthcare provider will look for include:
Based on these early clues, the healthcare provider can order a genetic test to confirm the diagnosis. The blood test can definitively diagnose familial dysautonomia based on two copies of theELP1gene mutation.
Prenatal ScreeningFor couples of Ashkenazi Jewish descent, genetic screening of theELP1mutation is often included as part of the standard panel of prenatal tests. Preconception screening is also possible for couples at risk of having a child with FD.Since prenatal screening for the familial dysautonomia gene became available in 2001, the rate of babies born with FD has decreased in the United States.
Prenatal Screening
For couples of Ashkenazi Jewish descent, genetic screening of theELP1mutation is often included as part of the standard panel of prenatal tests. Preconception screening is also possible for couples at risk of having a child with FD.Since prenatal screening for the familial dysautonomia gene became available in 2001, the rate of babies born with FD has decreased in the United States.
For couples of Ashkenazi Jewish descent, genetic screening of theELP1mutation is often included as part of the standard panel of prenatal tests. Preconception screening is also possible for couples at risk of having a child with FD.
Since prenatal screening for the familial dysautonomia gene became available in 2001, the rate of babies born with FD has decreased in the United States.
Familial Dysautonomia Treatedment
There is currently no treatment or cure for familial dysautonomia. However, there are many interventions that can help manage symptoms and prevent disease complications. Some of these measures are temporary, while others are used over the long term.
Treatment options include:
Monitoring
Regular monitoring is also an important part of managing the disease. This is important because certain symptoms of the disease can worsen over time.
People with FD often need:
Coping With Familial Dysautonomia
Certain situations can temporarily worsen certain symptoms of FD. When possible, these situations should be avoided in people with the condition. These might include:
It’s also important for caregivers to take care of themselves. When dealing with a chronic and severe condition like familial dysautonomia, it’s important to reach out to others.
As a family, it will take major adjustments to accommodate your child’s best care. But it is easier than ever before to network with other families who have experience with the disease. TheFamilial Dysautonomia Foundationprovides many resources for support.
Summary
Familial dysautonomia is an inherited disorder most common in people of Ashkenazi Jewish descent. FD disrupts the nervous system, causing symptoms like a lack of tears, poor growth, frequent lung infections, abnormal heart rhythms, sleep apnea, and eye problems. This can lead to sudden death and other potentially fatal complications.
7 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.MedlinePlus.Familial dysautonomia.Palma JA, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H.Current treatments in familial dysautonomia.Expert Opin Pharmacother. 2014;15(18):2653-71. doi:10.1517/14656566.2014.970530MedlinePlus.Familial dysautonomia.Shohat M, Hubshman MW.Familial dysautonomia. In Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. University of Washington, Seattle. December 2014.NYU Langone.Screening for familial dysautonomia.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. doi:10.1016/j.rmed.2018.06.017Mendoza-Santiesteban CE, Palma JA, Hedges TR, et al.Pathological confirmation of optic neuropathy in familial dysautonomia.J Neuropathol Exp Neurol. 2017;76(3):238-244. doi:10.1093/jnen/nlw118Additional ReadingDietrich P, Dragatsis I.Familial dysautonomia: mechanisms and models.Genet Mol Biol. 2016;39(4):497–514. doi:10.1590/1678-4685-GMB-2015-0335Naftelberg S, Abramovitch Z, Gluska S, et al.Phosphatidylserine ameliorates neurodegenerative symptoms and enhances axonal transport in a mouse model of familial dysautonomia.PLoS Genet. 2016;12(12):e1006486. doi:10.1371/journal.pgen.1006486
7 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.MedlinePlus.Familial dysautonomia.Palma JA, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H.Current treatments in familial dysautonomia.Expert Opin Pharmacother. 2014;15(18):2653-71. doi:10.1517/14656566.2014.970530MedlinePlus.Familial dysautonomia.Shohat M, Hubshman MW.Familial dysautonomia. In Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. University of Washington, Seattle. December 2014.NYU Langone.Screening for familial dysautonomia.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. doi:10.1016/j.rmed.2018.06.017Mendoza-Santiesteban CE, Palma JA, Hedges TR, et al.Pathological confirmation of optic neuropathy in familial dysautonomia.J Neuropathol Exp Neurol. 2017;76(3):238-244. doi:10.1093/jnen/nlw118Additional ReadingDietrich P, Dragatsis I.Familial dysautonomia: mechanisms and models.Genet Mol Biol. 2016;39(4):497–514. doi:10.1590/1678-4685-GMB-2015-0335Naftelberg S, Abramovitch Z, Gluska S, et al.Phosphatidylserine ameliorates neurodegenerative symptoms and enhances axonal transport in a mouse model of familial dysautonomia.PLoS Genet. 2016;12(12):e1006486. doi:10.1371/journal.pgen.1006486
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
MedlinePlus.Familial dysautonomia.Palma JA, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H.Current treatments in familial dysautonomia.Expert Opin Pharmacother. 2014;15(18):2653-71. doi:10.1517/14656566.2014.970530MedlinePlus.Familial dysautonomia.Shohat M, Hubshman MW.Familial dysautonomia. In Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. University of Washington, Seattle. December 2014.NYU Langone.Screening for familial dysautonomia.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. doi:10.1016/j.rmed.2018.06.017Mendoza-Santiesteban CE, Palma JA, Hedges TR, et al.Pathological confirmation of optic neuropathy in familial dysautonomia.J Neuropathol Exp Neurol. 2017;76(3):238-244. doi:10.1093/jnen/nlw118
MedlinePlus.Familial dysautonomia.
Palma JA, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H.Current treatments in familial dysautonomia.Expert Opin Pharmacother. 2014;15(18):2653-71. doi:10.1517/14656566.2014.970530
Shohat M, Hubshman MW.Familial dysautonomia. In Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. University of Washington, Seattle. December 2014.
NYU Langone.Screening for familial dysautonomia.
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. doi:10.1016/j.rmed.2018.06.017
Mendoza-Santiesteban CE, Palma JA, Hedges TR, et al.Pathological confirmation of optic neuropathy in familial dysautonomia.J Neuropathol Exp Neurol. 2017;76(3):238-244. doi:10.1093/jnen/nlw118
Dietrich P, Dragatsis I.Familial dysautonomia: mechanisms and models.Genet Mol Biol. 2016;39(4):497–514. doi:10.1590/1678-4685-GMB-2015-0335Naftelberg S, Abramovitch Z, Gluska S, et al.Phosphatidylserine ameliorates neurodegenerative symptoms and enhances axonal transport in a mouse model of familial dysautonomia.PLoS Genet. 2016;12(12):e1006486. doi:10.1371/journal.pgen.1006486
Dietrich P, Dragatsis I.Familial dysautonomia: mechanisms and models.Genet Mol Biol. 2016;39(4):497–514. doi:10.1590/1678-4685-GMB-2015-0335
Naftelberg S, Abramovitch Z, Gluska S, et al.Phosphatidylserine ameliorates neurodegenerative symptoms and enhances axonal transport in a mouse model of familial dysautonomia.PLoS Genet. 2016;12(12):e1006486. doi:10.1371/journal.pgen.1006486
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