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.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Dysfunctional neural crest cells cause familial dysautonomia, which is incurable and can affect nerves' ability to regulate emotions, blood pressure and bowel movements.
Gil Ast and colleagues administered phosphatidylserine to cells derived from familial dysautonomia patients and observed an increase in gene function as well as higher levels of IKAP.
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.
FAMILIAL dysautonomia is a rare genetic disorder that affects the development and function of nerves throughout a person's body.
BBC Four, Monday, 10pm Familial dysautonomia is a rare genetic disorder that affects the development and function of nerves throughout a person's body.
Familial dysautonomia is an autosomal recessive disorder that affects the sensory and autonomic nervous system.
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