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Dejerine-Sottas disease

Pronunciation: de-zhe-ren' so-tahz'

Definition: a familial type of demyelinating sensorimotor polyneuropathy that begins in early childhood and is slowly progressive; clinically characterized by foot pain and paresthesias, followed by symmetric weakness and wasting of the distal limbs; one of the causes of stork legs; patients are wheelchair bound at an early age; peripheral nerves are palpably enlarged and nontender; pathologically, onion bulb formation is seen in the nerves: whorls of overlapping, intertwined Schwann cell processes that encircle bare axons; usually autosomal recessive inheritance; an autosomal dominant form also exists; both forms can be caused by mutations in the peripheral myelin protein gene 22 (PMP22) on 17q or in the myelin protein zero gene (MPZ) on 1q.

Synonym(s): Dejerine disease, hereditary hypertrophic neuropathy, progressive hypertrophic polyneuropathy

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