Familial Dysautonomia

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 reports^{2 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 . . .