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||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Limb-Girdle Muscular Dystrophy, Type 2D||SGCA||2-7  (p.R77C)||AR||Caucasian||1 in 290||40%||0.0020703933747412|
|Limb-Girdle Muscular Dystrophy, Type 2D||SGCA||2-7  (p.R77C)||AR||Worldwide||< 1 in 500||38%||0.00124069478908189|
|Limb-Girdle Muscular Dystrophy, Type 2D||SGCA||2-7  (p.R77C)||AR||Finnish||1 in 150||>95%||0.000335457900033546|