Familial distal dysautonomia

Abstract

A patient is described who presented with painful feet on exercise. He had no evidence of peripheral vascular disease but did have anhidrosis and failure of vasodilatation in the hands and feet suggesting peripheral dysautonomia. Examination of his mother and a cousin and clinical histories of blood relatives suggested that his problem was a severe presentation of a familial distal dysautonomia. In other family members this was represented by dry hands and feet and variable vasomotor symptoms. This condition appeared to be autosomal dominant.