Open AccessLate-Onset Axial Myopathy and Camptocormia in a Calpainopathy Carrier
Author(s) -
Teerin Liewluck,
Brent P. Goodman
Publication year - 2012
Publication title -
journal of clinical neuromuscular disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.466
H-Index - 29
eISSN - 1537-1611
pISSN - 1522-0443
DOI - 10.1097/cnd.0b013e3182461a9c
Subject(s) - medicine , myopathy , parkinsonism , asymptomatic , asymptomatic carrier , muscular dystrophy , etiology , pediatrics , pathology , physical medicine and rehabilitation , disease
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.