Respiratory failure related to the progressive muscular dysfunction in the paraspinal trunk muscles, including the diaphragm and accessory muscles of respiration, is a major cause of morbidity and mortality in LOPD.
Cardiac abnormalities and hepatomegaly are usually not present in LOPD.
Learn more about the clinical presentation of LOPD.
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Cite this: Ranjodh Gill. Fast Five Quiz: Presentation and Diagnosis of Pompe Disease - Medscape - Mar 17, 2023.
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