Familial Dysautonomia (FD) is a severe disease of the autonomic nervous system, which controls involuntary functions such as swallowing, temperature, sweating, tears, and blood pressure regulation.
People with FD cannot regulate these autonomic functions and also have trouble sensing pain and heat. They commonly suffer from severe gastrointestinal problems, poor growth, repeated pneumonia, and eye damage caused by the inability to produce tears.
FD does not affect intelligence. With early treatment, children with FD can survive to adulthood.
The carrier frequency in the Ashkenazi population is approximately 1 in 35. Testing for the common mutations provides a carrier detection rate of 99.5%