Limb-Girdle Muscular Dystrophy, Type 2D (SGCA)

Limb-girdle muscular dystrophy, type 2D is an autosomal recessive disorder that is caused by pathogenic variants in the gene SGCA. While it is found in different ethnicities around the world, it is more prevalent in individuals of Finnish descent. This form of muscular dystrophy presents with weakness of the pelvic and shoulder girdle in childhood, with symptoms usually present by the age of 10 years. Progression is rapid, and patients usually lose the ability to walk independently in adolescence. Patients may also develop cardiomyopathy, scoliosis and/or 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 2DSGCA2-7 [10] (p.R77C)ARCaucasian1 in 29040%0.0020703933747412
Limb-Girdle Muscular Dystrophy, Type 2DSGCA2-7 [10] (p.R77C)ARWorldwide< 1 in 50038%0.00124069478908189
Limb-Girdle Muscular Dystrophy, Type 2DSGCA2-7 [10] (p.R77C)ARFinnish1 in 150>95%0.000335457900033546