ABSTRACT
Pompe disease is a progressive
myopathy resulting from
deficiency in lysosomal
enzyme acid α-
glucosidase (GAA), which leads to
glycogen accumulation in
lysosomes primarily in skeletal and
cardiac muscle.
Enzyme replacement therapy (ERT) with recombinant
human (rh) GAA works well in alleviating the
cardiomyopathy; however, many
patients continue to have progressive
muscle weakness. The purpose of this study was to evaluate the
effectiveness of a respiratory
training combined with 24-week supervised
resistance training program on
muscle strength (measured by Biodex)), and respiratory function including
maximum inspiratory pressure (MIP),
maximum expiratory pressure (MEP) in subjects with late onset
Pompe disease receiving ERT. Ten subjects participated in a 24-week resistance
exercise program, three times per week, in addition to
respiratory muscle exercise training six days per week. Overall, at the end of the
resistance training program, as measured by Biodex dynamometry, the
leg extensor strength improved by 10.5⯱â¯3.2Nm. (
leg flexors improved by 12.1⯱â¯4.1Nm (p < 0.01), the elbow flexors improved by 5.1⯱â¯2.3Nm (pâ¯=â¯0.03), and the elbow extensor strength improved by a mean of 4.5⯱â¯1.9Nm. (pâ¯=â¯0.02). MIP improved by 8.5⯱â¯3.7â¯cm H2O (pâ¯=â¯0.03) and the MEP by 6.4⯱â¯4.4 (pâ¯=â¯0.16). The exercise training significantly improved the trajectories of MIP and 6 MWT outcomes but not FVC when compared with the natural history data available in 6 individuals. These pilot results indicate that resistance training combined with respiratory training and ERT had a positive effect on muscular strength, functional capacity, and respiratory function in patients with late-onset Pompe disease and might be considered as a potential adjunct therapy in this population.