Calpainopathy presenting as foot drop in a 41 year old

• 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
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2010.04.006

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.