Ashkenazi Disorders: Mendelian


Photo courtesy of the Mallow family and FD Hope, Inc.

Familial Dysautonomia

This is a disorder which affects functions of the body such as swallowing, temperature regulation, sensitivity to heat and pain, and tearing of the eyes. This condition is seen almost exclusively in Ashkenazi Jews. Like most of the Jewish genetic disorders, this disease is inherited in a recessive fashion. There currently is no cure for FD but some treatments are available which can improve the length and quality of life.

 

 

 

Disease frequency:1 in 3,800 in Jewish population
Carrier frequency:Approximately 1 in 30 in those of Jewish ancestry
Diagnosis:Made by a physician knowledgeable of symptoms of FD or by genetic testing of the gene for FD by a blood test.
Inheritance:Autosomal Recessive
Carrier testing:Available through genetic testing of the FD gene. Testing can identify greater than 95% of Ashkenazi Jewish Carriers.
Prenatal diagnosis:Done by genetic testing of the FD gene. Testing is available to those with a previously affected child or to couples found to be at risk through carrier testing.

Technical Information on Familial Dysautonomia

Additional Information:
Dysautonomia Foundation, Inc.
633 Third Avenue, 12th Floor
New York, NY 10017
(212) 949-6644
fax: (212) 682-7625
www.familialdysautonomia.org

Familial Dysautonomia Hope Foundation
(FD Hope)
605 5th Avenue, NE
Conover, NC 28613
(828) 695-1060
www.fdhope.org

National Dysautonomia Research Foundation
421 W. Fourth St. Ste. #9
Red Wing, MN 55066-2555
(651) 267-0525
fax: (651) 267-0524
email: ndrf@ndrf.org
www.ndrf.org

Dysautonomia Treatment and Evaluation Center
(212) 263-7225
fax: (212) 263-7041
email: Felicia.Axelrod@med.nyu.edu
http://www.med.nyu.edu/fd/fdcenter.html