Calpainopathy presenting as foot drop in a 41 year old

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 childho...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2010-06, Vol.20 (6), p.407-410
Main Authors: Burke, G, Hillier, C, Cole, J, Sampson, M, Bridges, L, Bushby, K, Barresi, R, Hammans, S.R
Format: Article
Language:English
Subjects:
Adult
Blotting, Western
Calpain - genetics
Calpain 3
Calpainopathy
CAPN3 mutation
Creatine Kinase - metabolism
DNA - genetics
Electromyography
Exons - genetics
Foot - pathology
Foot drop
Humans
Limb girdle muscular dystrophy 2A
Magnetic Resonance Imaging
Male
Muscle Proteins - genetics
Muscle Weakness - etiology
Muscle Weakness - genetics
Muscle Weakness - pathology
Muscle, Skeletal - pathology
Muscular Dystrophies, Limb-Girdle - genetics
Muscular Dystrophies, Limb-Girdle - pathology
Neural Conduction - physiology
Neurology
Neuromuscular Diseases - genetics
Neuromuscular Diseases - pathology
Neuromuscular Diseases - physiopathology
Spine - pathology
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Summary: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.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2010.04.006