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Familial Dysautonomia, also called FD, is a neurologic disorder characterized by episodic vomiting, abnormal sweating, pain and temperature insensitivity, an inability to produce tears, scoliosis, and abnormal feeding and sucking difficulties. This disease is found almost exclusively in Ashkenazi Jewish families.

• 1 in every 36 Ashkenazi Jews is a carrier of FD – and the disease is almost exclusively found in Ashkenazi Jewish families.
• When two carriers have a child together, there is a 1 in 4 chance the child will have Familial Dysautonomia. (See autosomal recessive inheritance)
• Genetic testing, also called “carrier screening”, is available to determine if you are a carrier of FD. This test has a detection rate of 99%.
• A single mutation on the IKBKAP gene on chromosome 9 accounts for most cases of FD.
• The only treatments available for FD treat the symptoms of the disease. Though the treatments cannot cure FD, they can improve the length and quality of a patient’s life.
• Resources for families with FD: FD Hope, National Dysautonomia Research Foundation, Dysautonomia Treatment and Evaluation Center, Dysautonomia Foundation, Inc.
• Why certain genetic conditions are found almost exclusively in certain ethnic groups: the “founder effect” and “beneficial mutation” theory.
• More posts about Ashkenazi Jewish genetic conditions

Technorati Tags: familial dysautonomia, ashkenazi jewish diseases, carrier testing, genetic testing, genes, inheritance patterns, symptoms, treatment, resources

This entry was posted on Thursday, March 1st, 2007 at 11:34 am and is filed under Ashkenazi Jewish Diseases, Genetic Testing, Pregnancy & Infertility. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.