Observational studyJournal of neurology, neurosurgery, and psychiatry2026
Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla
Observational study in Journal of neurology, neurosurgery, and psychiatry, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions.Frontiers in neurologyReview
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLate-onset Pompe disease has a characteristic pattern of fat replacement and wasting of especially axial and hamstring muscles. This characteristic pattern of muscle degeneration is still to be explained but could relate to differences in how glycogen is deposited in the different muscles. This cross-sectional observational study investigates the glycogen levels of different muscle groups in young late-onset Pompe subjects and matched controls.
methods
results11 late-onset Pompe patients (6 female, mean age 31, range 20-44) and 16 healthy volunteers (10 female, mean age 27, range 19-35) were included. We found that Pompe subjects had 1.8 (95% CI 1.56 to 2.16) times more glycogen in hamstring muscles (p≤0.001) and 2.2 (95% CI 1.24 to 2.48) times more in lumbar muscles (p≤0.004), 1.4 (95% CI 1.07 to 1.73) times more in the anterior thigh muscles (p=0.045) while levels were similar to healthy persons in the calf (95% CI 0.83 to 1.12, p=0.7).
conclusionsThe first muscles to degenerate in Pompe disease are hamstring and paraspinals. Our findings, therefore, suggest that high glycogen levels precede fatty degeneration of muscles, and that monitoring glycogen levels could be an important biomarker to assess treatment effect in Pompe disease.
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