Fast Five Quiz: Presentation and Diagnosis of Pompe Disease

Ranjodh Gill, MD


March 17, 2023

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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