Fast Five Quiz: Glycogen Storage Disease Type II (Pompe Disease)

Wayne E. Anderson, DO


August 06, 2021

Three major forms of glycogen storage disease type II are recognized: classic infantile-onset, a nonclassic variant of infantile-onset disease, and late-onset disease (includes childhood, juvenile, and adult-onset disease). The most common classic infantile-onset presentation usually starts within the first few months of life and causes myocardiopathy. The nonclassic form may start before 12 months of age (nonclassic infantile-onset) or after 12 months of age, but it does not affect the heart.

Adults with late-onset glycogen storage disease type II typically have proximal muscle weakness between the second and sixth decades of life. Cardiac involvement is less likely among individuals with disease onset at an older age.

Learn more about the presentation of patients with glycogen storage disease type II.


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