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familial dysautonomia

   Also found in: Medical, Acronyms, Wikipedia 0.01 sec.
familial dysautonomia [fə′mil·yəl ‚dis‚ȯd·ə′nō·mē·ə]
(medicine)
A hereditary disease transmitted as an autosomal recessive and characterized from infancy by evidence of autonomic nervous system dysfunction, including feeding difficulties, absence of overflow tears, indifference to pain, absent corneal reflexes and deep tendon reflexes, and absence of fungiform papillae on the tongue; most common in Jewish children.


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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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