Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla C NMR spectroscopy.
Beha GH, Stemmerik MG, Boer VO, van der Ploeg AT, van der Beek NA, Andersen H, Marsman A, Jacobsen LN, Theunissen MTM, Petersen ET, Vissing J
Journal of neurology, neurosurgery, and psychiatry, 2025 Oct 15
Abstract
Late-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.