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Robert Rehmann, Martijn Froeling, Marlena Rohm, Johannes Forsting, Rudolf André Kley, Tobias Schmidt-Wilcke, Nesrin Karabul, Christine Meyer-Frießem, Jan Vollert, Martin Tegenthoff, Matthias Vorgerd, Lara Schlaffke

• MRI is a helpful tool for monitoring disease progression in late-onset Pompe disease (LOPD). Our study aimed to evaluate if muscle diffusion tensor imaging (mDTI) shows alterations in muscles of LOPD patients with <10% fat-fraction. We evaluated 6 thigh and 7 calf muscles (both legs) of 18 LOPD and 29 healthy controls (HC) with muscle diffusion tensor imaging (mDTI), T1w, and mDixonquant sequences in a 3T MRI scanner. The quantitative mDTI-values axial diffusivity (\(\lambda_{1}\)), mean diffusivity (MD), radial diffusivity (RD), and fractional anisotropy (FA) as well as fat-fraction were analyzed. 6-Minute Walk Test (6-MWT) data were correlated to diffusion metrics. We found that mDTI showed significant differences between LOPD and HC in diffusion parameters (\(\it P\) < .05). Thigh muscles with <10% fat-fraction showed significant differences in MD, RD, and \(\lambda_{1-3}\). MD positively correlated with 6-MWT (\(\it P\) = .06). To conclude, mDTI reveals diffusion restrictions in muscles of LOPD with and without fat-infiltration and reflects structural changes prior to fatty degeneration.