Late-onset axial myopathy and camptocormia in a calpainopathy carrier

J Clin Neuromuscul Dis. 2012 Jun;13(4):209-13. doi: 10.1097/CND.0b013e3182461a9c.

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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Biopsy
  • Calpain / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscle Fibers, Skeletal / pathology
  • Muscle Proteins / genetics
  • Muscular Atrophy, Spinal / etiology*
  • Muscular Atrophy, Spinal / genetics
  • Muscular Atrophy, Spinal / pathology
  • Muscular Diseases / etiology*
  • Muscular Diseases / genetics
  • Muscular Diseases / pathology
  • Muscular Dystrophies, Limb-Girdle / complications*
  • Muscular Dystrophies, Limb-Girdle / genetics
  • Muscular Dystrophies, Limb-Girdle / pathology
  • Mutation / genetics
  • Spinal Curvatures / etiology*
  • Spinal Curvatures / genetics
  • Spinal Curvatures / pathology

Substances

  • Muscle Proteins
  • CAPN3 protein, human
  • Calpain

Supplementary concepts

  • Camptocormia
  • Limb-girdle muscular dystrophy type 2A