Muscular dystrophies are inherited disorders characterized by progressive muscle fiber degeneration, weakness, and often elevated serum creatine kinase. Limb-girdle muscular dystrophies primarily affect the shoulder and pelvic girdle muscles but may also involve the heart, respiratory muscles, axial musculature, or distal muscles depending on the underlying genetic cause.

This panel includes genes associated with the major forms of muscular dystrophy, including limb-girdle muscular dystrophy, dystrophinopathies, sarcoglycanopathies, dystroglycanopathies, collagen VI-related disorders, Emery-Dreifuss muscular dystrophy, and related progressive muscle disorders. Representative genes include DMD, CAPN3, DYSF, FKRP, ANO5, SGCA, SGCB, SGCD, SGCG, LMNA, CAV3, COL6A1, COL6A2, COL6A3, and TTN.

This panel is recommended for patients with progressive muscle weakness suggestive of muscular dystrophy, particularly those with proximal weakness, elevated CK, cardiomyopathy, respiratory involvement, or characteristic muscle imaging findings.