Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial


Pompe disease is an autosomal recessive inherited progressive metabolic myopathy that results in skeletal, cardiac, and smooth muscle weakness, respiratory muscle involvement, and early death. Deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA) causes tissue destruction and muscle fiber atrophy [1]. Pompe disease manifests clinically across a spectrum based on age of onset, progression rate, genetic mutation(s), and disease distribution [2]. Late-onset Pompe disease (LOPD) presents as a spectrum of disease involvement from the first year of life to patients who present in adulthood with signs and symptoms related to progressive weakness in the lower limbs, trunk, and respiratory muscles [3-5].


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