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Background  Pompe Disease (PD) is a rare inherited metabolic myopathy, caused by lysosomal- α -glucosidase (GAA) deficiency, which leads to glycogen accumulation within the lysosomes, resulting in cellular and tissue damage. Due to the emergence of a disease modifying treatment with recombinant GAA there has been a large increase in studies of late onset Pompe Disease (LOPD) during the last decade.    Methods  The present study evaluates muscle quality in 10 patients with LOPD receiving treatment with enzyme replacement therapy and in 10 age and gender matched healthy controls applying T 1 -weighted Dixon MR imaging and isokinetic dynamometry. Muscle quality was determined by muscle strength in relation to muscle size (contractile cross-sectional area, CSA) and to muscle quality (fat fraction). A follow-up evaluation of the patients was performed after 8–12 months. Patient evaluations also included: six-minute walking test (6MWT), forced vital capacity, manual muscle testing and SF-36 questionnaire.    Results  Fat fraction of knee flexors (0.15 vs 0.07,  p  < 0.05) and hip muscles (0.11 vs 0.07,  p  < 0.05) were higher in patients than controls. In patients, contractile CSA correlated with muscle strength (knee flexors:  r  = 0.86, knee extensors:  r  = 0.88, hip extensors:  r  = 0.83,  p  < 0.05). No correlation was found between fat fraction and muscle strength. The fat fraction of thigh muscles did not correlate with scores from the clinical tests nor did it correlate with the 6MWT. During follow-up, the contractile CSA of the knee extensors increased by 2%. No other statistically significant change was observed. Quantitative MRI reflects muscle function in patients with LOPD, but larger long-term studies are needed to evaluate its utility in detecting changes over time.

Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease—an MRI study