Effects of Aerobic Exercise Training in Late-Onset Pompe Disease Before and 1 Month after Enzyme Replacement Therapy.

Pompe disease is a progressive multisystem disease caused by a lysosomal acid α-glycosidase enzyme (GAA) defi ciency, resulting in lysosomal accumulation of glycogen. The late-onset form is characterized by progressive skeletal and respiratory muscle dysfunction leading to functional disability and impairment of quality of life. Enzyme replacement therapy (ERT) and treatments, such as protein-enriched diet and exercise training, have been proposed as possible countermeasures for muscle impairment in patients with late-onset Pompe disease (LOPD). However, there are no established guidelines on therapeutic exercise for individuals with LOPD, and evidence of a benefi cial effect of exercise training is relatively scarce in these patients, and is mainly before receiving ERT. This retrospective study reports the results of a home-based submaximal aerobic exercise on functional capacity and pulmonary function in a patient with LOPD with mild respiratory manifestation and moderate skeletal muscle disease, prior to ERT regimen and 1 month after receiving ERT.