Epidemiology and Screening for Pompe Disease in Sweden.

Pompe disease (PD; acid maltase defi ciency or glycogen storage disease type II) is an autosomal recessive inherited, potentially treatable metabolic myopathy with heterogeneous clinical presentations and with considerable overlap of signs and symptoms found in other neuromuscular disorders. According to previous reports, patients with PD have been incorrectly diagnosed for several years as limb–girdle muscular dystrophies (LGMDs). To diagnose both entities is challenging, and a diagnostic delay of several years seems to be common. The frequency of misdiagnosis is unknown. No epidemiologic studies have been carried out on PD in the nordic countries.