Familial dysautonomia is a disorder that causes that causes the body’s nerve cells to deteriorate, affecting involuntary actions like breathing, tear production, blood pressure, and body temperature.
Symptoms may begin in infancy and include feeding problems, poor growth and muscle tone, lung infections, lack of tears, unstable blood pressure, and fluctuations in body temperature. This condition may also be associated with delays walking and speech. Individuals can have a reduced sensitivity to temperature and pain, and have kidney, heart and bone problems.
Familial dysautonomia is caused by pathogenic (disease-causing) variants in the ELP1 gene (formerly called the IKBKAP gene) and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 36 chance to be a carrier. Carriers typically do not experience any symptoms.
Another name for this condition is Riley-Day syndrome.
Resources:
Familial Dysautonomia Foundation
National Organization for Rare Disorders (NORD)
Revised October 2023
