Section Editor: Sandy Cheng-Yu Chen, M.D.
Taipei Medical University Hospital, Taipei, Taiwan
Limb-girdle muscular dystrophy (LGMD) type 2B is a rare autosomal recessive subtype of muscular dystrophy, caused by mutations in the DYSF gene. The onset age of LGMD type 2B is usually at 12–39 years, typically presenting with pelvic girdle weakness. Pain is not a typical feature; however, if present, it is usually mild, transient, and follows exertion. Creatine kinase (CK) levels are markedly raised. At times, genetically inherited myopathies can mimic inflammatory myopathy. Other approaches such as muscle biopsy and muscle MRI may also help establish the clinical diagnosis. The classic MRI feature is severe bilateral fatty replacement of the psoas iliac muscles, lumbar muscles, and gluteal muscles, as seen on axial T1 and axial T2-weighted images (A and B). Sagittal STIR image shows fat suppression in the paraspinal muscles (C). Therefore, a comprehensive understanding of the genetic variability and clinical spectrum of LGMD is essential before precise diagnosis, treatment, and genetic counselling can be offered.