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Updated: Dec 15, 2025
Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease
Published on: December 18, 2016
Diffusion tensor imaging reveals changes in non-fat infiltrated muscles in late onset Pompe disease
Robert Rehmann1, Martijn Froeling2, Marlena Rohm1
1Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.
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.
Insights
Muscle diffusion tensor imaging (mDTI) detects early structural changes in late-onset Pompe disease (LOPD) muscles, even before significant fat infiltration occurs. These MRI findings correlate with patient mobility, aiding disease monitoring.
Area of Science:
- Biomedical Imaging
- Neuromuscular Disorders
- Radiology
Background:
- Late-onset Pompe disease (LOPD) is a progressive neuromuscular disorder.
- Magnetic Resonance Imaging (MRI) is valuable for monitoring LOPD progression.
- Early detection of muscle changes is crucial for LOPD management.
Purpose of the Study:
- To assess muscle diffusion tensor imaging (mDTI) for detecting alterations in LOPD patients.
- To investigate mDTI in LOPD muscles with less than 10% fat fraction.
- To correlate mDTI findings with functional assessments like the 6-Minute Walk Test (6-MWT).
Main Methods:
- Evaluated thigh and calf muscles in 18 LOPD patients and 29 healthy controls using a 3T MRI scanner.
- Acquired mDTI, T1w, and mDixonquant sequences to quantify diffusion parameters (MD, RD, FA, λ1-3) and fat fraction.
- Correlated diffusion metrics with 6-MWT results.
Main Results:
- Significant differences in diffusion parameters were observed between LOPD patients and healthy controls (P < .05).
- Thigh muscles with <10% fat infiltration showed significant alterations in MD, RD, and λ1-3.
- Mean diffusivity (MD) demonstrated a positive correlation with 6-MWT performance (P = .06).
Conclusions:
- Muscle diffusion tensor imaging (mDTI) effectively reveals diffusion restrictions in LOPD muscles.
- mDTI identifies structural muscle changes preceding fatty degeneration in LOPD.
- mDTI shows potential as a sensitive imaging biomarker for LOPD progression.
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