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Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy)
Insights
This study details the first Japanese cases of Bethlem myopathy, a rare genetic muscle disorder. The mother and son experienced progressive muscle weakness and joint stiffness but no heart issues, indicating a benign disease course.
Area of Science:
- Neurology
- Genetics
- Myology
Background:
- Bethlem myopathy is a rare autosomal-dominant inherited muscle disorder.
- It is characterized by progressive muscle weakness and joint contractures.
- Previous reports have primarily focused on European populations.
Abstract:
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.