Familial dysautonomia

Familial dsyautonomia is a disorder of the autonomic nervous system resulting in variable syptoms including insensivity to pain, inability to produce tears, poor growth, and labile blood pressure. People with FD have frequent vomiting, pneumonia, problems with speech and movement, and difficulty swallowing. FD does not affect intelligence.

Incidence

FD is seen almost exclusively in Ashkenazi Jews and is inherited in an autosommal recessive fashion. Both parents must be carriers in order for a child to be affected. The carrier frequency in individuals of Eastern European (Ashkenazi) ancestry is about 1/30. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of familial dysautonomia.

Treatment

There currently is no cure for FD and death occurs in 50% of affected individuals by age 30.