Familial dysautonomia
From Health Encyclopedia
Contents |
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Used for
familial autonomic nervous dysfunction, Riley Day syndrome
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Broader Terms
congenital nervous system disorder, genetic disorder
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Related Terms
hereditary sensory neuropathy, psychosis
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Scope Note
autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent; clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension, fixed pupils, excessive sweating, loss of pain and temperature sensation, and absent reflexes; pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons.
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Facts (generated by robot; please edit if you find it inaccurate)
- Cause Familial dysautonomia is caused by mutation of the IKBKAP gene on chromosome 9.
- 68:753758, 2001 753 Report Familial Dysautonomia Is Caused by Mutations of the IKAP Gene Sylvia L.
- Life Expectancy: In general Familial Dysautonomia is a fatal disease, with approx 50% of individuals reaching the age of Thirty.
- Supporting clinical treatment and research into improving treatments for Familial Dysautonomia is one of the most crucial components of the Foundation's mission.
- Familial dysautonomia is inherited in an autosomal recessive manner and is due to mutation in the IKBKAP gene on chromosome 9q31.
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