Researchers reported exercise training to be a safe and effective way to improve aerobic capacity and muscle function in patients with glycogen storage diseases such as Pompe disease, according to a new study published in Therapeutic Advances in Rare Disease.

Glycogen storage diseases are a group of inherited disorders of metabolism that result in the deficiency of enzymes involved in carbohydrate metabolism. The main systems that are affected are the skeletal muscle and liver. While some patients are asymptomatic or only suffer from mild symptoms, others experience severe pathophysiological implications that drastically affect the quality of life and life expectancy.

Currently, there are no curative treatments available for glycogen storage diseases; available management strategies aim to improve quality of life by alleviating clinical symptoms. Exercising was once seen as a counterintuitive activity in patients, given their higher probability of experiencing exercise intolerance.

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“However, increasingly, evidence suggests exercise can be beneficial in reducing symptoms and increasing [quality of life], rather than accelerating the disease,” the research team wrote. They thus conducted a systematic review to determine the feasibility of exercise training as a treatment option in patients with glycogen storage diseases. They used electronic search engines to carry out their research.

The researchers selected 23 articles for their final review, with all patients either diagnosed with McArdle or Pompe disease. They discovered that the combination of aerobic and strength training in patients with Pompe disease improved muscular strength, aerobic capacity, functional capacity, and well-being.

Respiratory muscle training had the effect of improving respiratory muscular strength by increasing the maximum inspiratory pressure by up to 65% and the maximum expiratory pressure by up to 70%. 

“Further studies of longer duration with multiple follow-up periods would allow us to see if beneficial effects would be maintained long term and if exercise training has wider implications on preventing chronic diseases such as diabetes and cardiorespiratory disease,” the researchers concluded.


Bordoli C, Murphy E, Varley I, Sharpe G, Hennis P. A systematic review investigating the effectiveness of exercise training in glycogen storage diseasesTher Adv Rare Dis. Published online February 23, 2022. doi:10.1177/26330040221076497