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.









Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Limb-Girdle Muscular Dystrophy, Type 2CSGCG2, 3, 6-8 [8] (*4)ARWorldwide1 in 35465%0.00099009900990099
Limb-Girdle Muscular Dystrophy, Type 2CSGCG2, 3, 6-8 [8] (*4)ARMorocco1 in 25077%0.000922509225092251
Limb-Girdle Muscular Dystrophy, Type 2CSGCG2, 3, 6-8 [8] (*4)ARRoma1 in 96>95%0.000526038926880589