Late-onset Pompe disease (LOPD) is an inherited lysosomal storage disease, in which the enzyme acid alpha-glucosidase (GAA) is deficient. It is characterized by proximal limb-girdle muscle weakness and respiratory insufficiency. The disease is progressive, and if left untreated, may result in significant motor disability and respiratory failure. As of 2010, nine studies have been published documenting the incidence of LOPD. In the U.S. the incidence of the disease is 1 in 40,000. Recently Pompe disease has become part of the newborn screening panel in multiple states.

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