What is Pompe Disease?

The more we learn about this rare genetic disorder, the more determined we become to move mountains—for our child, for others and for Pompe research.

As with any medical issue, each patient’s experiences can vary. The information we have gathered below is an overview and is not intended to serve as a substitute for diagnosis and treatment from a qualified medical professional. 

What is Pompe Disease?1

Pompe is a genetic disorder, so those who experience this disease are born with it. While symptoms may be apparent at birth or show up later on in life, Pompe is caused by a change in the DNA sequence. It isn’t something a person can catch or contract by other means.

Pompe causes the body to produce a shortage (or none at all) of acid alfa glucosidase, which helps break down complex sugars. This results in a buildup of these sugars, which weakens muscles and organs. Only around 1 in 18,711 people in the U.S. have Pompe3

What are the symptoms?1

  • Weak muscles and/or poor muscle tone
  • Growing and gaining weight more slowly than average
  • Losing weight
  • Trouble breathing and eating
  • Respiratory infections
  • Hearing problems
  • Delayed motor skills
  • Abnormally large heart and/or liver
  • Difficulty walking
  • Frequent falls
  • Breathing problems
  • Morning headaches
  • Fatigue

Please note that this condition presents on a spectrum and symptom severity, disease progression and age of onset will vary from person to person.

How is it diagnosed?1

Pompe is diagnosed through a blood test. Sleep studies, muscle function tests, breathing tests, and heart studies may also be recommended.

Infants who show symptoms within a few months of birth will die without treatment, which is why we are such strong proponents of newborn screenings. Early detection leads to better results and longer lives for all those with Pompe, regardless of when in life their symptoms present.

Is there a cure?2

At this time, there is no cure. Our hope is that through increased awareness, testing and research, a cure can be developed.

Are there treatments?2

Yes. Marshall and others like him receive enzyme replacement therapy. Simply put, this is when the missing enzyme is replaced in the body via an IV. While this helps address what causes Pompe, many other treatments are needed to address the symptoms and complications. Someone living with Pompe may benefit from:

  • Occupational therapy
  • Physical therapy
  • Speech therapy
  • Nutrition therapy
  • Respiratory therapy
  • Support from Pompe Disease specialists, as well as cardiologists, neurologists and other medical professionals

Are you newly diagnosed?

The Acid Maltase Deficiency Association has helpful information. We also recommend reviewing this guide created by numerous Pompe advocates.

Additional Resources

Duke Health
Cleveland Clinic
Pompe & You
Pompe Disease News

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