Hereditary Motor Sensory Neuropathy Type I Presenting as Scapuloperoneal Atrophy (Davidenkow Syndrome) Electrophysiological and Pathological Studies

A 14 year old boy with scapuloperoneal muscular atrophy, pes cavus, areflexia and distal sensory loss (Davidenkow syndrome) is described. Nerve conduction velocities were diminished. Sural nerve biopsy demonstrated a reduction in the number of myelinated fibers and early "onion-bulb" formation. These observations support the hypothesis that the scapuloperoneal amyotrophy associated with distal sensory loss may represent a variant of type I hereditary motor sensory neuropathy.