Muscle Wasting Disorders

Muscle wasting disorders encompass a group of conditions characterized by abnormal loss of muscle mass and function. The most common inherited forms are muscular dystrophies, including Duchenne muscular dystrophy (DMD), the most severe and prevalent type, and Becker muscular dystrophy (BMD), which is less severe and progresses more slowly. DMD typically affects boys, appearing between ages 2–6, with rapid weakness affecting the pelvis, arms, and legs, often leading to survival beyond the 20s being rare.

Other major types include Myotonic, Limb-Girdle, Facioscapulohumeral, Congenital, Distal, Oculopharyngeal, and Emery-Dreifuss muscular dystrophies, each differing in affected muscles, age of onset, and progression rate.

Non-inherited muscle wasting occurs systemically in older adults as sarcopenia (age-related muscle loss) or in chronic diseases as cachexia, seen in cancer, heart failure, kidney disease, diabetes, and COPD. Muscle atrophy also results from inactivity, immobilization, or nerve damage (denervation).

The primary mechanism involves excessive protein breakdown with reduced protein synthesis, causing rapid loss of muscle strength. This leads to reduced mobility, increased morbidity, and higher mortality. While exercise remains the only proven approach to slow atrophy, new therapeutic agents targeting cytokines like myostatin and transcriptional programs promoting wasting are under development. Early diagnosis and multidisciplinary care are critical for managing symptoms and maintaining quality of life.