Familial Dysautonomia (IKBKAP)
Familial dysautonomia is an autosomal recessive disorder caused by pathogenic variants in the gene IKBKAP. The vast majority of patients with familial dysautonomia are of Ashkenazi Jewish descent. This disease affects the development and survival of neurons. Onset is during infancy, where symptoms include hypotonia and developmental delay. Other clinical features include frequent vomiting and other gastrointestinal problems, impaired sensitivity to pain and temperature, and recurrent pneumonia. As children age, they are ataxic and have difficulty walking. Intellect is unaffected. Symptoms progress in severity over time. Death often occurs suddenly in childhood due to problems with the lungs or from other unknown causes; infections are also a frequent cause of death. With current treatments, approximately 60% of patients reach age 20.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.