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 ?
Lastly, the investigators used their regimen on skin cells from patients with familial dysautonomia, then compared these familial dysautonomia-neural crest cells to the control neural crest cells made from healthy adults.
Editor's Note: In addition to the gene associated with familial dysautonomia, the team observed alterations in 2,400 other genes, many of which have been associated with Parkinson's disease, in association with the administration of phosphatidylserine.
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.
Sam Frears, a 39-year-old actor, knows a lot about familial dysautonomia, as Storyville: My Friend Sam - Living For The Moment (BBC Four, 10pm) reveals.
Types of disease Main features of disease Type I Sensory radicular neuropathy Type II Congenital sensory neuropathy Type III Familial dysautonomia Type IV Congenital insensitivity to pain with anhidrosis Type V Congenital indifference to pain
Berish Rubin, chairman of the Department of Biological Sciences, Fordham University, who is a specialist in the genetic illness Familial Dysautonomia.
The son, Andrew Slaw, has a rare and fatal genetic disorder called familial dysautonomia, or FD.
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