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.
D000293:Adolescent; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000145:classification* / Q000150:complications; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000145:classification* / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction; D012782:Shoulder; D013497:Sural Nerve / Q000648:ultrastructure