Limb-Girdle Muscular Dystrophy

Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders that cause progressive muscle weakness and wasting, primarily affecting the shoulders (shoulder girdle) and hips (pelvic girdle). Life expectancy varies by type and severity, but many individuals can lead long lives with proper medical care and supportive therapy.

  • Cause: Caused by mutations in various genes involved in muscle function. Inheritance can be autosomal dominant or recessive, depending on the subtype (e.g., LGMD1, LGMD2).

  • Features: Gradual weakening of hip and shoulder muscles, leading to difficulty climbing stairs, rising from chairs, or lifting objects. Severity and progression vary widely; some individuals may lose the ability to walk.

  • Diagnosis: Based on symptoms, family history, blood tests (e.g., elevated creatine kinase), genetic testing, EMG, and sometimes muscle biopsy.

  • Treatment: No cure; management includes physical therapy, orthopedic support, respiratory monitoring, and sometimes cardiac care depending on the subtype.

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