Abstract: Familial dysautonomia is a rare genetic disease. It is the most extensively described of the disorders known as hereditary sensory and autonomic neuropathies, a group of disorders which appear to affect development, survival and function of peripheral and central sensory and autonomic tracts (Axelrod & Pearson, 1984; Pearson et al., 1974). In the original report of familial dysautonomia by Riley et al. (1949), the disorder was called central autonomic dysfunction with defective lacrimation. Knowledge of the disorder has since expanded so that genetic transmission and pathophysiology are better understood and treatment programs have resulted in improved survival (Axelrod & Abularrage, 1982).
Publication Year: 2004
Publication Date: 2004-01-08
Language: en
Type: book-chapter
Indexed In: ['crossref']
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