Pompe Disease and Exercise

Pompe disease is a debilitating inherited disorder that causes progressive muscle weakness, or myopathy, among other symptoms.

The disease is caused by the deficiency of an enzyme called acid alpha-glucosidase, which is involved in breaking down a complex sugar called glycogen. Normally, glycogen is constantly being broken down into glucose, a smaller sugar, which is used as the primary energy source of most cells. Without functional acid alpha-glucosidase, glycogen builds up to toxic levels inside cells, preventing them from working properly and causing damage. In particular, this buildup is known to affect the heart, respiratory system, and skeletal muscles.

Skeletal muscles are essential for movement, and many patients with late-onset Pompe disease find it increasingly difficult to exercise and usually require mobility aids, such as a wheelchair, as the disease progresses.

Enzyme replacement therapy (ERT), which can compensate for the reduced activity of the acid alpha-glucosidase enzyme to some extent, is most often prescribed to patients and can help improve symptoms.

Physiotherapy also is generally recommended to preserve muscle strength in people with the disease, allowing them to maintain independence for as long as possible. Because the disease frequently affects the muscles of the trunk, legs, and hips, patients often become more unbalanced, leading to an increase in falls. Physiotherapists can advise on techniques to cope with these changes, and also on how to stand up without further injury after a fall.

Recent studies have been examining whether more strenuous exercise regimes, tailored for patients with Pompe, may be safe and could complement ERT to improve physical symptoms.

Clinical trials for exercise in Pompe disease

A 12-week study examined the safety and effectiveness of ERT alone compared with ERT plus a standardized training regime in 25 patients with Pompe disease, ages 17 or older. Training consisted of 36 sessions of aerobic, resistance and core stability exercises over the trial period. In total, 23 patients completed the program, which took place in the Netherlands.

Results of the study, published in the Orphanet Journal of Rare Diseases, suggested that physical training was safe for the patients and did not cause further damage to muscles as previously thought. Patients in the exercise group showed a significant increase in endurance, balance, oxygen uptake, and muscle function compared with the group who took ERT alone.

A second article from the trial, published in the Archives of Physical Medicine and Rehabilitation, described the effects of the exercise regime on the patient’s overall pain, fatigue, and functioning. Patients were evaluated before and after the exercise program, using tests such as the fatigue severity scale and the Rasch-built Pompe-specific activity scale. Results showed that patients participating in exercise reported significantly less fatigue and pain overall.

A smaller five-patient study, published in Molecular Genetics and Metabolism in 2011, investigated the effect of a 20-week exercise program on muscle strength, body composition, and overall function in patients with late-onset Pompe disease. At the end of the study, there was a significant increase in the distance that patients could walk, using the six-minute walk test, suggesting an improvement in muscle function. Furthermore, there was a significant increase in muscle strength, and in upper body mass. The lower body, which is more affected by the disease, also showed an increase in mass, but this was not significant.

Further trials are ongoing to identify the positive effects of tailoring a diet and exercise plan to individual patients with Pompe disease. For example, the University of Florida is recruiting up to 26 participants with Pompe disease, ages 15-40, to participate in a 16-week trial (NCT02363153) investigating whether a specialized diet and exercise plan can improve the ability to exercise, respiratory function, and overall quality of life in people with Pompe disease.


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.