Familial sensory autonomic neuropathy with arthropathy in Navajo children.

Abstract

Eight Navajo children had a neuropathy characterized by Charcot's joints and unrecognized fractures. Their reflexes were intact and they had normal strength. The sensory examinations in the group were variable. Many had no discernible sensory deficit. Others had subtle deficiency in deep pain sensation, temperature discrimination, and corneal sensitivity. Electromyography and nerve conduction velocities were normal in the seven studied; however, sural nerve biopsy revealed a marked reduction in small myelinated and unmyelinated nerve fibers. This sensory neuropathy, which we call "Navajo familial neurogenic arthropathy," differs from the acromutilating sensory neuropathy previously described by Appenzeller et al in Navajo children. It also differs clinically from a number of previously reported cases of hereditary sensory autonomic neuropathies in non-Navajos. The disorder in these eight children emphasizes the usefulness of pathologic investigation of the sural nerve in patients with Charcot's joints with minimal or no other neuropathic signs.