Fast Five Quiz: Presentation and Diagnosis of Pompe Disease

Ranjodh Gill, MD


March 17, 2023

Progressive hypertrophic cardiomyopathy is a major feature and hallmark symptom of patients presenting with IOPD. Clinical presentations include cardiomegaly on x-ray, reduction in lung volume, and atelectasis, as well as short PR intervals and tall QRS complexes on ECG. Other symptoms of IOPD include rapidly progressive muscle weakness, hypotonia, macroglossia, and hepatomegaly.

Cardiac involvement is typically rare in late-onset Pompe disease (LOPD), whereas symptoms of LOPD are mainly related to progressive skeletal muscle dysfunction in the proximal lower limb and paraspinal trunk muscles that leads to progressive respiratory insufficiency and limb-girdle weakness. Joint deformities are also visible in LOPD, particularly in adult-onset disease.

Learn more about the clinical presentation of IOPD.


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