Glycogen Storage Disease Type II - Epidemiology

Epidemiology

The incidence of the disease is approximately 1 in 140,000 for infantile GSD II and 1 in 60,000 for adult GSD II. It has been reported in almost all ethnic populations. It has an autosomal recessive inheritance pattern. This means the defective gene is located on an autosome, and two copies of the gene—one from each parent—are required to be born with the disorder. As with all cases of autosomal recessive inheritance, children have a 1 in 4 chance of inheriting the disorder when both parents carry the defective gene, and although both parents carry one copy of the defective gene, they are usually not affected by the disorder.

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