When Diseases Disappear -- The Case of Familial Dysautonomia

Abstract

The physiological defect was eventually identified as inadequate development of the sensory and autonomic nervous systems, which left the affected children with postural hypotension alternating with hypertension, excessive sweating, esophageal dysmotility, insensitivity to hypoxia, hypotonia, severe spinal curvature, and an ataxic gait.