As the phenotypic features of Pompe disease are different and distinct from each other, the diagnostic investigation is based on the key presenting features and stage of life of the patient: infant, child, and adult.
Diagnosis of IOPD revolves around the presentation primarily of cardiac, pulmonary, neurologic, and gastrointestinal manifestations (eg, hepatomegaly). Diagnosis also takes into consideration respiratory, musculoskeletal, and gastrointestinal symptoms, and very rarely, cardiomegaly (which is found primarily in juvenile patients). IOPD is a much more severe disease state that progresses rapidly.
Molecular analysis may be helpful in selected cases, but not all. Determination of the common late-onset splice site mutation is useful in White patients.
Learn more about the workup of Pompe disease.
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Cite this: Ranjodh Gill. Fast Five Quiz: Presentation and Diagnosis of Pompe Disease - Medscape - Mar 17, 2023.