Introduction: Glycogen storage diseases (GSDs) are rare inborn errors of carbohydrate metabolism typically with skeletal muscle and liver involvement. In those with skeletal muscle involvement, the majority display symptoms of exercise intolerance which can cause profound exercise limitation and impair everyday living and quality of life (QoL). There are no curative treatments for GSDs, thus therapeutic options, such as exercise training, are aimed at improving QoL by alleviating signs and symptoms. In order to investigate the effectiveness of exercise training in adults with GSDs, we systematically reviewed the literature.
Methods: In this review we conducted searches within SCOPUS and MEDLINE to identify potential papers for inclusion. These papers were independently assessed for inclusion and quality by two authors. We identified 23 studies which included aerobic training, strength training or respiratory muscle training in patients with McArdles (n = 41) and Pompe disease (n = 139).
Results: In McArdle disease, aerobic exercise training improved aerobic capacity (VO2 peak) by 14-111% with further benefits to functional capacity and well-being. Meanwhile, strength training increased muscle peak power by 100-151% and reduced disease severity. In Pompe disease, a combination of aerobic and strength training improved VO2 peak by 9-10%, muscle peak power by 64%, functional capacity and well-being. Furthermore, respiratory muscle training (RMT) improved respiratory muscular strength [maximum inspiratory pressure (MIP) increased by up to 65% and maximum expiratory pressure (MEP) by up to 70%], with additional benefits shown in aerobic capacity, functional capacity and well-being.
Conclusion: This adds to the growing body of evidence which suggests that supervised exercise training is safe and effective in improving aerobic capacity and muscle function in adults with McArdle or Pompe disease. However, the literature base is limited in quality and quantity with a dearth of literature regarding exercise training in other GSD subtypes.
Keywords: endurance training; exercise; glycogen storage disease; respiratory training; review; strength training.
A Systematic Review investigating the Effectiveness of Exercise training in Glycogen Storage Diseases Background: Glycogen storage diseases (GSDs) are a group of rare inherited metabolic disorders typically affecting carbohydrate metabolism within the skeletal muscle and liver. In those where the skeletal muscle is affected, the majority display exercise intolerance which can impact everyday living and quality of life. No curative treatments for GSDs exist, therefore exercise training offers a therapeutic option to reduce symptoms and enhance patient’s quality of life. In order to investigate the effectiveness of exercise training as a therapeutic option, we systematically reviewed the literature. Study Characteristics: We found 23 studies which included aerobic training, strength training and respiratory muscle training in adults with certain types of GSD including McArdles (n = 41) and Pompe disease (n = 139). Key Results: In McArdle disease, aerobic exercise improved aerobic performance, with further benefits to functional capacity and well-being. Meanwhile, strength training increased muscular strength and reduced disease severity.In Pompe disease a combination of aerobic and strength training improved aerobic capacity, muscular strength, functional capacity and well-being. Furthermore, respiratory muscle training (RMT) improved the strength of respiratory muscles with further benefits in aerobic capacity, functional capacity and well-being. Implications: This systematic review indicates that supervised exercise training is safe and effective in improving aerobic capacity and muscle function in adults with McArdle or Pompe disease. However, the effectiveness of exercise training in other GSDs is as yet unknown.
© The Author(s), 2022.