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spinal muscular atrophy type III

 

Definition: the juvenile form, with onset in childhood or adolescence; characterized by progressive proximal muscular weakness and wasting, primarily in the pelvic girdle, followed by distal muscle involvement; caused by degeneration of motor neurons in the anterior horns of the spinal cord; autosomal recessive inheritance, caused by mutation in the SMN1 gene on 5q.

Synonym(s): juvenile muscular atrophy, juvenile spinal muscular atrophy, Kugelberg-Welander disease, Wohlfart-Kugelberg-Welander disease

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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