title: 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 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.
authors.affiliation: Wessex Neurological Centre, Southampton University Hospitals Trust, UK. burke_georgina@hotmail.com
authors.forename: G
authors.initials: G
authors.lastname: Burke
authors.forename: C
authors.initials: C
authors.lastname: Hillier
authors.forename: J
authors.initials: J
authors.lastname: Cole
authors.forename: M
authors.initials: M
authors.lastname: Sampson
authors.forename: L
authors.initials: L
authors.lastname: Bridges
authors.forename: K
authors.initials: K
authors.lastname: Bushby
authors.forename: R
authors.initials: R
authors.lastname: Barresi
authors.forename: S R
authors.initials: SR
authors.lastname: Hammans
mesh_terms: D000328:Adult; D015153:Blotting, Western; D002154:Calpain / Q000235:genetics*; D003402:Creatine Kinase / Q000378:metabolism; D004247:DNA / Q000235:genetics; D004576:Electromyography; D005091:Exons / Q000235:genetics; D005528:Foot / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009124:Muscle Proteins / Q000235:genetics; D018908:Muscle Weakness / Q000209:etiology / Q000235:genetics / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics / Q000473:pathology; D009431:Neural Conduction / Q000502:physiology; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D013131:Spine / Q000473:pathology
chemical_list: D009124:Muscle Proteins; D004247:DNA; D003402:Creatine Kinase; C105884:CAPN3 protein, human; D002154:Calpain