What Your Test Results Mean:

Carriers typically show no symptoms of familial dysautonomia; however, carriers are at an increased risk of having a child with familial dysautonomia. Risk for current or future pregnancies is dependent on your partner’s carrier status.

Disease Explained:

Familial dysautonomia is an inherited nerve disorder that typically presents at birth and progresses with time. Individuals with familial dysautonomia have gastrointestinal dysfunction, vomiting crises, recurrent pneumonia, altered sensitivity to pain and temperature, and cardiovascular instability. The disease has been associated with a high incidence of sudden death associated with lung infections and sepsis, as well as unexplained causes.

Treatment is focused on managing symptoms of the disease. With improved supportive treatment, lifespan has increased with approximately 60% of individuals with familial dysautonomia surviving beyond age 20 years.

How the Genetics Works:

The clinical features of familial dysautonomia can be explained by pathogenic variants in the IKBKAP gene. In general, individuals have two copies of the IKBKAP gene. Carriers of familial dysautonomia have a single variant in one copy of the IKBKAP gene while individuals with familial dysautonomia have variants in both copies of their genes, one inherited from each parent.