Chicago Center for Jewish Genetics Disorders - Ashkenazi Disorders: Familial Dysautonomia

Ashkenazi Disorders: Mendelian

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

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 Ashkenazi Jewish population

Carrier frequency: Approximately 1 in 30 in those of Jewish ancestry. Frequency in the non-Ashkenazi population in less than 1 in 150.

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 99% 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.
315 W 39th Street, Suite 701
New York, NY 10018
(212) 279-1066
Email: info@familialdysautonomia.org
www.familialdysautonomia.org

Familial Dysautonomia Hope Foundation (FD Hope)
110 Deerwood Court
Chapel Hill, NC 27517
(828) 238-3149
Email: info@fdhope.org
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

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This page last updated on September 7, 2007.