Familial Dysautonomia

Publisher Website
Google Scholar
Abstract
FAMILIAL dysautonomia was established as a clinical entity in 1949.1 The early reports clearly describe the unusual constellation of symptoms, which ordinarily make the diagnosis relatively simple.2 It typically involves a Jewish child with a history of dysphagia and recurrent bronchopneumonia as an infant. Later, an absence of tears, poor motor co-ordination, postural hypotension, emotional lability, with hypertensive episodes, vomiting, skin blotching and excessive perspiration, are noted. Autopsy reports2 3 4 have not been consistent, suggesting that the observations may not be fundamental to the disease.In recent years efforts have been directed toward investigating the abnormal physiology. Some of the observations . . .