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Abstract #2713

Muscle Diffusion tensor imaging shows changes in non-fat infiltrated muscles in late-onset Pompe disease (LOPD)

Lara Schlaffke1, Martijn Froeling2, Marlena Rohm1, Johannes Forsting1, Martin Tegenthoff1, Matthias Vorgerd1, and Robert Rehmann1
1Neurology, BG UK Bergmannsheil, Bochum, Germany, 2Radiology, UMC Utrecht, Utrecht, Netherlands

Quantitative MRI-markers are essential for monitoring disease progression in late-onset pompe disease (LOPD). Using muscle diffusion tensor imaging (mDTI) and mDixon we evaluated differences in diffusion parameters in six thigh and seven calf muscles - with <10% and >10% fat-fraction - of 18 LOPD and 29 healthy controls (HC). Upper leg muscles with <10% fat-fraction showed significant differences in MD, RD, λ1-3 and MD positively correlated with 6-MWT (p=0.003). mDTI reveals an increased diffusion restriction in muscles of LOPD-patients with and without fat-infiltration and could reflect structural changes prior to fatty degeneration.

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