Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy)

Pediatr Neurol. 1989 Jul-Aug;5(4):232-6. doi: 10.1016/0887-8994(89)90081-7.


We report the first Japanese patients, a mother and son, with early-onset, benign, autosomal-dominant, limb-girdle myopathy with contractures (Bethlem myopathy). The clinical features revealed predominantly proximal muscle weakness--especially in the limb-girdle muscles--joint contractures increasing with age, a benign course, and the absence of cardiac involvement. Muscle histology revealed nonspecific myopathy changes without dystrophic features. Electromyogram revealed a reduced interference pattern with a giant spike suggesting a neurogenic process.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Contracture / complications*
  • Female
  • Humans
  • Male
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / physiopathology*
  • Pelvis
  • Shoulder