"It's a difficult debilitating disease but... people are making progress... people are living with it and there is a lot of hope out there."
~ Brian, Pompe patient

Healthcare Professionals

Disease Overview

Pompe disease is a progressive, multisystemic, debilitating, and often fatal neuromuscular disorder.  The disease is linked to an inherited deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), which is responsible for the breakdown of glycogen inside the cells. Learn more

Signs & Symptoms

All patients with Pompe disease exhibit progressive muscular weakness. Proximal limb and respiratory muscles are the most commonly affected across all ages, while cardiomyopathy is the hallmark sign in infants.

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Diagnosis

Recognizing Pompe disease can be challenging, as its signs and symptoms are similar to those of other diseases and disorders. As a result, significant diagnostic delays are common in many patients.

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Pompe Registry

Find out about the Pompe Registry, a program that tracks information about patients’ symptoms and experiences in order to improve understanding of Pompe disease.

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Musculoskeletal Symptoms

Characteristic neuromuscular symptoms of Pompe disease include the following:

  • Progressive muscular (especially limb-girdle) weakness
  • Mobility difficulties, gait abnormalities, and/or loss of motor function
  • Respiratory weakness
Signs & Symptoms of Pompe disease