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Calpainopathy presenting as foot drop in a 41 year old

Lookup NU author(s): Emerita Professor Katherine Bushby, Dr Rita Barresi

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Abstract

Mutations in the gene encoding muscle-specific calpain 3 protease cause limb girdle muscular dystrophy type 2A. Calpainopathy is characterised by progressive symmetrical atrophy of pelvic, scapular and trunk muscles with an elevated creatine kinase. Most patients develop symptoms in childhood and lose the ability to walk by the age of 40 years. We describe a man who presented with foot drop at the age of 41 years, together with neurophysiological, histopathological and genetic data. This is the first report of calpainopathy presenting as foot drop, and widens the phenotype associated with this disease. (C) 2010 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Burke G, Hillier C, Cole J, Sampson M, Bridges L, Bushby K, Barresi R, Hammans SR

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2010

Volume: 20

Issue: 6

Pages: 407-410

Print publication date: 23/05/2010

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/j.nmd.2010.04.006

DOI: 10.1016/j.nmd.2010.04.006

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