Limb-Girdle Muscular Dystrophy, Type 2F (SGCD)

Limb-girdle muscular dystrophy type 2F is an autosomal recessive disorder caused by pathogenic variants in the gene SGCD. The disease is characterized by progressive muscle weakness and wasting of the shoulder and pelvic girdle. It is frequently associated with progressive respiratory muscle impairment, calf pseudohypertrophy, joint contractures, scapular winging, muscle cramping and cardiomyopathy. Life expectancy depends on the severity of symptoms, and death may occur in late adolescence.

For information about carrier frequency and residual risk, please see the residual risk table.