Familial Dysautonomia found in Jewish lineage

Familial Dysautonomia (FD) is a genetic disease that occurs almost exclusively among individuals of Eastern European (Ashkenazi) Jewish descent.

According to the Dysautonomia Foundation based in New York City, it’s estimated that one in 30 individuals of Eastern European Jewish ancestry is a carrier of the gene for FD.

Children with FD often do not feel pain and may break a bone or burn themselves without any awareness of the injury. Crying without tears is one of the most striking symptoms of FD.

Other symptoms which may be present include: Hypotonia (poor muscle tone) or "floppy baby" signs; delayed developmental milestones such as walking and speech; wide swings in blood pressure; frequent lung infections or pneumonias; early spinal curvature.

All parents of children with FD are carriers of the defective recessive gene that transmits the disease. A parent has no symptoms or warning signs of being a carrier. When two carriers marry, there’s a 25 percent chance with each pregnancy that the recessive genes will pair and produce FD in the child. Thus the first clue for most individuals that they are carriers is the birth of a child with FD.

In 2001, the FD gene was discovered. Carrier testing and prenatal screening are now available to the general public.

Genetic testing is performed on a small sample of blood. The reliability of the test is reported to be greater than 99 percent. If both members of a couple are shown to be carriers by genetic testing, prenatal diagnosis by amniocentesis (14-17 weeks) or chorionic villus sampling (10-11 weeks) is possible.

Additional information is available through the Dysautonomia Genetic Counseling Center at (212) 263-5746; the Dysautonomia Foundation at (212) 949-6644; or the Southern California chapter at (818) 345-0354 (Anne Rainer or Barbara Soll); or visit the Website at www.FamilialDysautonomia.org.