FAQs About Pompe Disease

Vaidyanathan Subramaniam avatar

by Vaidyanathan Subramaniam |

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Information about rare genetic disorders such as Pompe disease can be hard to find, complicating life for both patients and caregivers. This article offers an easy reference to some of the most commonly asked questions about Pompe disease.

What is Pompe disease?

Pompe disease is a rare and progressive genetic disorder, which results from the abnormal buildup of a sugar molecule called glycogen within the cells of various tissues, especially muscles. Symptoms of excess glycogen are varied and can include muscle weakness, motor difficulties, poor reflexes, spine curvature, and heart muscle damage.

What is the prevalence of Pompe disease?

About 1 in 40,000 people in the U.S. are thought to be affected by Pompe disease. Incidence varies among different ethnic groups worldwide.

What causes Pompe disease?

Pompe disease can be caused by hundreds of different mutations in the GAA gene, which encodes for an enzyme called acid alpha-glucosidase. This enzyme is required to breakdown the complex sugar glycogen into simple sugars, such as glucose, to be used by the cells to produce energy.

How is Pompe disease inherited?

Pompe disease is inherited in an autosomal recessive manner. This means that two copies of the defective gene are required for the symptoms to manifest in a person. Visit our Pompe disease inheritance page for more information.

How many types of Pompe disease exist?

Three main types of Pompe disease have been identified, based on age at disease onset and severity. They are called classic infantile-onset, non-classic infantile-onset, and late-onset Pompe.

Is Pompe disease contagious?

No. Pompe disease is inherited, but it cannot be acquired through physical contact with the affected person.

How do I know whether or not I have Pompe disease?

Symptoms of Pompe disease vary depending on its type. Refer to our Pompe disease symptoms page for more information.

Is Pompe disease life-threatening?

Infantile forms of Pompe disease can often be fatal, and immediate care is essential upon diagnosis. The late-onset form is often milder and progresses slowly.

What treatments are currently available?

No cure exists for Pompe disease today, but it symptoms can be managed and various treatment options are available. These include enzyme replacement therapy (ERT), and physical and occupational therapy. Several experimental therapies, such as gene therapy and chaperone therapy, are also being studied and tested.

More information can be found in our Pompe disease treatments page.

Where can I find more information about treatments and ongoing research?

We regularly publish articles on our website that cover a range of relevant news, information, and treatment options for patients and their caregivers, including news of ongoing research and upcoming treatments in development.

The following organizations also offer information about support groups, treatment options, and research:


Last updated: Aug. 28, 2019


Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.