sarcoglycanopathies
Sarcoglycanopathies are a group of genetic disorders that affect the muscles, specifically caused by mutations in the sarcoglycan genes. These genes are essential for the proper function of the muscle cell membrane, and their dysfunction leads to muscle weakness and degeneration. The most common types include limb-girdle muscular dystrophy type 2C and type 2D, which primarily affect the muscles around the hips and shoulders.
Symptoms of sarcoglycanopathies typically appear in childhood or early adulthood and may include difficulty walking, muscle cramps, and progressive loss of strength. Diagnosis is usually confirmed through genetic testing and muscle biopsies. While there is currently no cure, management focuses on physical therapy and supportive care to improve quality of life.