Manifestations of Familial Autonomic Dysautonomia

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Abstract
A typical case of familial autonomic dysautonomia is described. A review of the 124 previously reported cases has been made with an analysis of the pertinent findings. The essential features are defective lacrimation, blotching of the skin, excessive sweating, and excessive drooling, which are observed during infancy. Less constant findings are emotional instability, blood pressure lability, pain indifference, and faulty speech. Approximately one third of the cases have a definite familial history. To date, dysautonomia has been reported only in Caucasians. The syndrome is most likely genetically determined, involving enzymatic defects in the metabolism and function of the catecholamines.

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