Familial Dysautonomia

Felicia B. Axelrod, Max J. Hilz

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Familial dysautonomia (FD) is one of the hereditary sensory and autonomic neuropathies that are generally characterized by widespread sensory dysfunction and variable autonomic dysfunction. FD is an autosomal recessive disorder that appears in individuals of Ashkenazi Jewish extraction. Two mutations in the IKAPgene, located on chromosome 9 (9q31), were shown to cause FD. Frequent manifestations of FD include hypotonia, delayed developmental milestones, oromotor incoordination and gastrointestinal dysmotility, labile body temperature and blood pressure, absence of overflow tears and corneal anesthesia, marked diaphoresis with excitement, breath-holding episodes, and spinal curvature. With greater understanding of the disorder and development of treatment programs, survival statistics have markedly improved allowing increasing numbers of patients to reach adulthood. Still of concern are the patients who succumb to unexplained deaths that may have been the result of unopposed vagal stimulation or a sleep abnormality.

Original languageEnglish
Title of host publicationPrimer on the Autonomic Nervous System
Subtitle of host publicationSecond Edition
PublisherElsevier Inc.
Pages312-315
Number of pages4
ISBN (Electronic)9780080473963
ISBN (Print)9780125897624
DOIs
StatePublished - 5 May 2004
Externally publishedYes

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