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Updated: Sep 6, 2025
Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease
Published on: December 18, 2016
Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Scores for Longitudinal and
Michelle L Mellion1, Per Widholm1, Markus Karlsson1
1From Fulcrum Therapeutics (M.L.M., L.R., A.O., J.J., D.C.), Cambridge, MA; AMRA Medical AB (P.W., M.K., A.A., O.D.L.), Linköping; Departments of Radiology and Health (P.W.), Medicine and Caring Sciences, Linköping University; Centre for Medical Image Science and Visualization (CMIV) (P.W.), Linköping University, Sweden; University of Rochester Medical Center (R.T.), Rochester, NY; Kennedy Krieger Institute (K.R.W.), Johns Hopkins School of Medicine, Baltimore, MD; University of Kansas Medical Center (J.M.S.), Kansas City; University of Washington (L.W.), Seattle; Ronald Reagan UCLA Medical Center (P.B.S.), Los Angeles, CA; Radboud University Medical Center (B.G.M.E., J.K.), Nijmegen, the Netherlands; University of California-Irvine (J.J.H., M.H.), Orange; Synterex Inc. (J.T.), Dedham, MA; and Linköping University (O.D.L.), Sweden. Dr. Kools is currently at the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Whole-body musculoskeletal MRI (WB-MSK-MRI) offers a reliable method for assessing facioscapulohumeral muscular dystrophy (FSHD) progression. This imaging biomarker correlates with disease severity and functional outcomes, showing potential for clinical trials.
Area of Science:
- Biomedical Imaging
- Musculoskeletal Imaging
- Neuromuscular Disorders
Background:
- Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle-weakening disease.
- MRI is sensitive to disease severity and progression in FSHD.
- Quantitative whole-body musculoskeletal MRI (WB-MSK-MRI) can analyze entire muscles.
Purpose of the Study:
- To assess WB-MSK-MRI as a potential imaging biomarker for FSHD.
- To develop reliable measurements of muscle health capturing disease heterogeneity.
- To create composite assessments correlating with severity and responsive to clinical trial changes.
Main Methods:
- Developed a quantitative WB-MSK-MRI protocol for 18 muscles in 17 FSHD1 participants (aged 18-65).
- Analyzed muscle fat infiltration (MFI), fat fraction (MFF), and lean muscle volume (LMV) using automated segmentation with manual verification.
- Created WB and functional composite scores correlating with timed up and go (TUG) and reachable workspace (RWS).
Main Results:
- Functional composites (MFF, MFI) showed moderate to strong correlations with TUG and RWS.
- WB composite variability (LMV, MFF, MFI) was low, indicating stability.
- Variability measures (CV, Sw) were higher in intermediate-fatty muscles compared to normal muscles.
Conclusions:
- A WB-MSK-MRI protocol and composite measures were developed for FSHD.
- These measures capture disease heterogeneity and correlate with clinical endpoints.
- The stability of the WB composite suggests its utility in therapeutic clinical trials.
