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familial dysautonomia

   Also found in: Acronyms, Encyclopedia, Wikipedia 0.04 sec.
dysautonomia /dys·au·to·no·mia/ (-aw-to-no´me-ah) malfunction of the autonomic nervous system.
familial dysautonomia  an inherited disorder of childhood characterized by defective lacrimation, skin blotching, emotional instability, motor incoordination, absence of pain sensation, and hyporeflexia; occurring almost exclusively in Ashkenazi Jews.

familial dysautonomia
n.
A congenital disorder involving the nervous system, especially the functioning of the autonomic nervous system, and including such symptoms as indifference to pain, diminished secretion of tears, poor vasomotor control, motor incoordination, difficulty in swallowing and emotional instability. Also called Riley-Day syndrome.

familial dysautonomia.
familial dysautonomia
Riley-Day syndrome Pediatric neurology An AR condition in Jews, which affects peripheral sensorimotor autonomic and CNS neurons Clinical FTT, episodic vomiting, URIs, autonomic dysfunction–skin blotching, lacrimation, temperature dysregulation, diaphoresis, HTN and postural hypotension, early death


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On occasion, physicians come across a second, milder form of familial dysautonomia This apparently stems from inheriting an even rarer mutation in IKBKAP from one parent and the more common mutation from the other.
But she got some ``hits,'' Internet parlance for finding World Wide Web pages containing a specified word, and moments later, Sherman, who has suffered from the disease since she was born, was staring at the familial dysautonomia home page, which had information on the cause, symptoms and treatment of the disease, which strikes only people of Eastern European ancestry.
Added Ann Slaw, one of the founders of the Familial Dysautonomia Hope Foundation, "Our small nonprofit was thrilled to be a beneficiary of Kintera's Martin Luther King, Jr.
 
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