Limb-Girdle Muscular Dystrophy, Type 2C (SGCG)
Limb-girdle muscular dystrophy, type 2C is an autosomal recessive disorder that is caused by pathogenic variants in the gene SGCG. While it is found in different ethnicities around the world, it is more prevalent in individuals from Morocco and individuals of Roma descent. This form of muscular dystrophy presents with weakness of the pelvic and shoulder girdle in infancy or childhood, with symptoms usually present by the age of 12 years. Progression is rapid, and patients are usually wheelchair-bound in adolescence. Patients may also experience cardiomyopathy and lung disease, and may develop scoliosis and joint contractures as the disease progresses. Life expectancy is unknown, although most patients with limb-girdle muscular dystrophies have a shorter than natural life-span. Currently, it is not possible to predict the severity disease based on the genotype.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.