Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C), also known as gamma-sarcoglycanopathy, comprises a range of disorders causing muscle weakness due to a deficiency in the gamma-sarcoglycan protein within the muscle system.
LGMD2C typically manifests in childhood, primarily affecting the proximal muscles (hip, shoulder, and abdomen) and leading to progressive weakness. The rate of muscle deterioration varies, often requiring wheelchair use in adolescence or adulthood. Additional features include enlarged calf muscles, contractures, winging of the shoulder blade, scoliosis, and mild heart complications, such as abnormal heart rhythms and cardiomyopathy, which may progress to heart failure. Respiratory complications are also associated with the condition and can be life-threatening. Symptoms vary widely, with some individuals exhibiting mild or nearly asymptomatic cases, while others face severe, potentially fatal symptoms. These variations highlight the condition’s diverse nature. While there is no cure, physical therapy is often recommended to maintain muscle strength and mobility. Stretching, mechanical aids, or surgery might assist in preserving mobility. As muscles weaken, ventilators may be necessary for breathing assistance. Regular cardiac monitoring is crucial, and individuals with heart issues should consult a cardiologist for symptomatic treatments.
LGMD2C is caused by pathogenic (disease-causing) variants in the SGCG gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
Muscular Dystrophy Association
Revised October 2023
