Signs and Symptoms

The clinical manifestations of Pompe disease may present individually or as a suspicious cluster of symptoms, depending on the patient. The following are among the most common signs and symptoms recorded in the literature for the two phenotypes. In the infantile-onset form, the signs and symptoms tend to present swiftly while in the late-onset form, the disease is more slowly progressive. Cognitive function is generally normal in patients with Pompe disease.

More about infantile-onset Pompe disease

More about late-onset Pompe disease