Disease Information for Dysautonomia, familial: Definition

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  • An 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 (HYPOTENSION, ORTHOSTATIC), 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; (From Adams et al, Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)------------------------------------------------------------.Dysautonomia, Familial; FD; HSAN-III; HSN-III; Hereditary Sensory Neuropathy Type III; Hereditary Sensory and Autonomic Neuropathy, Type III (HSAN, Type III); Riley-Day Syndrome; Familial Dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage; It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure; Symptoms of this disorder are apparent at birth; The autonomic nervous system controls vital involuntary body functions;--------------------------------- [NORD website 2005

    Dysautonomia, Familial

    FD

    HSAN-III

    HSN-III

    Hereditary Sensory Neuropathy Type III

    Hereditary Sensory and Autonomic Neuropathy, Type III (HSAN, Type III)

    Riley-Day Syndrome

    Disorder Subdivisions

    General Discussion

    Familial Dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage; It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure; Symptoms of this disorder are apparent at birth; The autonomic nervous system controls vital involuntary body functions;

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