familial dysautonomia


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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.
References in periodicals archive ?
Two research teams have identified the genetic mutation that causes familial dysautonomia, a rare but devastating disease.
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.
To raise awareness of preventable genetic disease, they are now publicly announcing for the first time that both of them tested positive as carriers for familial dysautonomia.
Tag-It(TM) ASR(x) reagents from Tm Bioscience will be used in the Center's Cystic Fibrosis gene assay, which detects multiple mutations associated with CF, and in its Ashkenazi Jewish Panel gene assay, which detects gene mutations associated with Tay-Sachs disease, Canavan Disease, Familial Dysautonomia, Gaucher Disease, Bloom Syndrome, Fanconi Anemia, Neimann-Pick Disease, and Mucolipidosis Type IV.
Andrew has a very rare, fatal genetic disorder called familial dysautonomia (FD).
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