Plectin-related limb-girdle muscular dystrophy R17

Plectin-related limb-girdle muscular dystrophy R17 (LGMDR17), formerly known as LGMD2Q, is an extremely rare autosomal recessive muscular dystrophy caused by mutations in the PLEC gene, which encodes plectin, a large cytoskeletal linker protein critical for maintaining the structural integrity of muscle cells. Plectin connects the cytoskeleton to various cellular structures, and its deficiency or dysfunction leads to progressive weakness and wasting of the proximal (limb-girdle) muscles, particularly those of the shoulders and hips. Patients typically present in childhood or early adulthood with progressive proximal muscle weakness affecting the pelvic and shoulder girdle musculature, leading to difficulty with activities such as climbing stairs, rising from a seated position, and lifting the arms overhead. Serum creatine kinase levels are usually elevated. Muscle biopsy may show dystrophic changes and reduced or absent plectin staining. Notably, mutations in the PLEC gene can also cause epidermolysis bullosa simplex with muscular dystrophy and other plectin-related disorders; however, in LGMDR17, skin involvement (blistering) may be absent or minimal, with the phenotype predominantly affecting skeletal muscle. There is currently no cure or disease-specific treatment for LGMDR17. Management is supportive and multidisciplinary, including physical therapy to maintain mobility and prevent contractures, respiratory monitoring, cardiac surveillance, and orthopedic interventions as needed. Genetic counseling is recommended for affected families. Research into potential therapies is ongoing but remains in early stages given the rarity of the condition.

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