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peroneal muscular atrophy


Definition: a generic title for at least three distinct hereditary neuromuscular disorders, all of which share the common features of pes cavis and marked wasting of the more distal portion of the limbs, particularly the peroneal muscle groups (resulting in the characteristic “stork legs”). Included in this designation are hereditary motor and sensory neuropathy, type I (formerly known as Charcot-Marie-Tooth, type I, or the hypertrophic type of peroneal muscular atrophy); hereditary and motor sensory neuropathy, type II (formerly known as Charcot-Marie-Tooth, type II, or the neuronal type of peroneal muscular atrophy); and distal hereditary motor neuronopathy (formerly known as Charcot-Marie-Tooth, type III, the spinal type of peroneal muscular atrophy, or distal spinal muscular atrophy).

Synonym(s): Charcot-Marie-Tooth disease

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.