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. 2020 Oct;62(4):541-549.
doi: 10.1002/mus.27021. Epub 2020 Jul 31.

Diffusion tensor imaging reveals changes in non-fat infiltrated muscles in late onset Pompe disease

Robert Rehmann  1 , Martijn Froeling  2 , Marlena Rohm  1 , Johannes Forsting  1 , Rudolf André Kley  1   3 , Tobias Schmidt-Wilcke  4   5 , Nesrin Karabul  6 , Christine H Meyer-Frießem  7 , Jan Vollert  8   9 , Martin Tegenthoff  1 , Matthias Vorgerd  1 , Lara Schlaffke  1
Affiliations

Diffusion tensor imaging reveals changes in non-fat infiltrated muscles in late onset Pompe disease

Robert Rehmann et al. Muscle Nerve. 2020 Oct.

Abstract

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 (λ1 ), 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 (P < .05). Thigh muscles with <10% fat-fraction showed significant differences in MD, RD, and λ1-3 . MD positively correlated with 6-MWT (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.

Keywords: 6-Minute Walk Test; diffusion tensor imaging; glycogen storage disease type II; magnetic resonance imaging; muscle, skeletal; tractography.

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References

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