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Pompe disease, also known as Glycogen Storage Disease Type II, is a rare genetic disorder caused by the deficiency of the enzyme acid alpha-glucosidase, leading to the accumulation of glycogen in the body's cells. This buildup, particularly in muscle cells, results in progressive muscle weakness, respiratory difficulties, and in severe cases, heart problems. The disease varies in severity, with forms ranging from a rapidly progressive type in infants to a more gradual onset in children and adults.

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