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Late-onset glycogen storage disease type 2 (GSD2) is a genetic but heterogeneous disorder, which may present anywhere along a continuum of severity from an isolated hyperCKemia to a profound, generalized muscle weakness with pulmonary involvement. The gold standard for diagnosis is confirmation of low or absent levels of acid alpha-glucosidase (GAA) enzyme activity (usually in the range of 1-40% of normal levels), which is confirmed only in some cases by molecular analysis of the GAA gene. In the literature, heterozygous individuals are usually considered to be asymptomatic, although they can have reduced enzymatic activity. Since enzyme replacement therapy (ERT) became available in 2006, it has improved the prognosis for severe infantile-onset Pompe disease, as well as for late-onset forms by improving muscle/respiratory function and/or stabilizing clinical progression. Because the disease is now treatable, it is essential to understand which patients may benefit from ERT.

Heterozygous individuals with mild phenotype in late-onset glycogen storage disease type 2: a new cohort of patients?