Familial dysautonomia (FD) is a rare inherited condition affecting your nervous system. It impacts breathing, salivating, forming tears and regulating body temperature and blood pressure. Providers diagnose FD with specific tests and genetic testing. Treatments include medications, therapy and surgery. People with FD have shorter life expectancies.
Familial dysautonomia (FD) is a condition that causes problems with your nervous system. You have this condition from birth.
Familial dysautonomia affects your body’s involuntary actions, such as:
It also affects your sensory nervous system. This includes:
You inherit FD from a gene change (mutation) passed down from your parents. Familial dysautonomia is also called:
Familial dysautonomia can increase the risk of developmental delay. People with this condition also have shorter life expectancies.
You must inherit a defective gene from each of your parents to develop familial dysautonomia. FD mainly affects people of Ashkenazi Jewish heritage.
Familial dysautonomia is a rare condition. An estimated 1 in 10,000 Ashkenazi Jews in the United States and 1 in 3,700 Ashkenazi Jews in Israel have this condition at birth.
Genetic changes (mutations) cause familial dysautonomia. Both of your parents must carry a mutation in a gene called ELP1. The ELP1 gene makes a protein that helps your nervous system develop. If this gene has a mutation, problems occur with parts of your nervous system.
Symptoms of FD begin in infancy. Early symptoms may include:
As a child ages, they may hold their breath for extended periods of time. This breath-holding behavior usually ends by 6 years of age.
As the disease progresses, symptoms may include:
Many people with familial dysautonomia have problems regulating blood pressure. This can lead to low blood pressure (orthostatic hypotension) when standing, which can cause dizziness or fainting. High blood pressure (hypertension) can also lead to kidney disease.
About 40% of people with FD have periods of time when symptoms worsen (autonomic crises). During these times, you may experience:
Your healthcare provider will first ask about your symptoms. They will also do a physical exam.
Your provider will look for an absence of tears when you cry. For children younger than 6 months, they may use the Schirmer test:
Your provider will also look for:
If your provider suspects FD, they may suggest genetic testing. This involves a blood test to check for the gene change (mutation) that causes familial dysautonomia.
FD treatment focuses on reducing your symptoms. Treatments may include:
Researchers continue to study new treatments in clinical trials. These treatments could help treat the disease itself and not only the symptoms.
You can’t reduce your risk of FD. But you can look for the signs so you can get prompt monitoring and treatment if needed.
If you have Ashkenazi Jewish heritage and are considering pregnancy, you may want to have genetic counseling. Your provider can also perform genetic testing before or during pregnancy to see if you carry the ELP1 gene.
There’s no cure for familial dysautonomia. People with FD have reduced life expectancies. About half of people with this condition live into their 30s. Others may live into their 70s.
Symptoms can become worse over time. For instance, about 49% of people with FD need assistance with walking by age 50. You may also have frequent bouts of pneumonia.
You can help to reduce complications if you:
You should also receive regular monitoring from your healthcare provider. They should check your:
A note from Cleveland Clinic
Familial dysautonomia (FD) is a rare genetic condition that affects your nervous system. FD can impact involuntary actions such as breathing, digestion, forming tears, regulating your blood pressure and body temperature and salivating. FD can also affect your ability to taste and sensitivity to pain and temperature. Though there’s no cure for FD, treatments such as medications, therapy and surgery focus on managing your symptoms. People with familial dysautonomia have reduced life expectancies but can lead full lives with proper treatment.
Last reviewed by a Cleveland Clinic medical professional on 09/29/2022.
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