Familial dysautonomia (also known as Riley-Day syndrome) is classified as the third hereditary sensory and autonomic neuropathy (HSAN type III). FD is an autosomal recessive disease in which the growth and development of selective nerves in impaired. In over 99% of cases, the disease occurs because of mutation in the gene that encodes for I-k-B kinase complex associated protein (IBKAP) on the long arm of chromosome 9q.31 and is confined to children of Ashkenazi Jewish origin.
This rare Jewish genetic disorder first described by the physician Conrad Riley and his colleague Richard Day in 1949 in New York. Dr. Felicia Axelrod began treating patients with FD during her residency. After completing her residency, the Dysautonomia Foundation, an organization of parents of affected children, and the Department of Pediatrics of the NYU Medical Center recognized Dr. Axelrod’s commitment to this unique population and founded the Dysautonomia Treatment and Evaluation Center, which she directed for the next 35 years. She dramatically increased the life expectancy of this disease with effective clinical interventions and identified the specific gene mutation that has lead to worldwide population screening and prenatal diagnosis that may one day make FD clinically invisible.
For more information on FD, click on the subheadings.