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: Teerin Liewluck, Brent P Goodman
• Journal: Journal of clinical neuromuscular disease (J Clin Neuromuscul Dis) Vol. 13 Issue 4 Pg. 209-13 (Jun 2012) ISSN: 1537-1611 [Electronic] United States
• PMID: 22622166 (Publication Type: Case Reports, Journal Article)

Chemical References

• Muscle Proteins
• CAPN3 protein, human
• Calpain

Topics

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