title: Late-onset axial myopathy and camptocormia in a calpainopathy carrier.
abstract: Camptocormia is a debilitating gait disorder characterized by the hyperflexion of the thoracolumbar spine during the upright position. Its etiologies are heterogenous, including parkinsonism and various neuromuscular disorders. Here, we report a camptocormia patient due to a late-onset axial myopathy with numerous lobulated fibers. The patient's father reportedly had similar symptoms. Myriad lobulated fibers are common among patients with an autosomal recessive muscular dystrophy due to calpain-3 gene (CAPN3) mutations or calpainopathy. CAPN3 sequencing revealed a single c.759-761delGAA mutation. Calpainopathy carriers are generally asymptomatic. The presence of lobulated fibers in this patient suggests that camptocormia could be a manifestation of calpainopathy carrier, although the possibility of a coexisting undiagnosed myopathy cannot be excluded. The current patient should spur the evaluation of camptocormia among calpainopathy carriers.
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, MN, USA.
authors.forename: Teerin
authors.initials: T
authors.lastname: Liewluck
authors.forename: Brent P
authors.initials: BP
authors.lastname: Goodman
mesh_terms: D000368:Aged; D001706:Biopsy; D002154:Calpain / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D009124:Muscle Proteins / Q000235:genetics; D009134:Muscular Atrophy, Spinal / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D009135:Muscular Diseases / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications* / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics; D013121:Spinal Curvatures / Q000209:etiology* / Q000235:genetics / Q000473:pathology
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain