Limb-Girdle Muscular Dystrophy, Type 2E (SGCB)
Limb-girdle muscular dystrophy, type 2E is an autosomal recessive, pan-ethnic disorder that is caused by pathogenic variants in the gene SGCB. This form of muscular dystrophy presents with weakness of the pelvic and shoulder girdle in childhood, with symptoms usually present by the age of 12 years. Progression is variable, and patients are usually wheelchair bound within 5 to 25 years after onset of symptoms. Rare patients may also develop dilated cardiomyopathy 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 residual risk table.