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Updated: Feb 27, 2026
Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease
Published on: December 18, 2016
Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy
Jedrzej Burakiewicz1, Christopher D J Sinclair2,3, Dirk Fischer4,5
1Department of Radiology, C. J. Gorter Center for High Field MRI, Leiden University Medical Centre, Leiden, The Netherlands.
Abstract:
The muscular dystrophies are rare orphan diseases, characterized by progressive muscle weakness: the most common and well known is Duchenne muscular dystrophy which affects young boys and progresses quickly during childhood. However, over 70 distinct variants have been identified to date, with different rates of progression, implications for morbidity, mortality, and quality of life. There are presently no curative therapies for these diseases, but a range of potential therapies are presently reaching the stage of multi-centre, multi-national first-in-man clinical trials. There is a need for sensitive, objective end-points to assess the efficacy of the proposed therapies. Present clinical measurements are often too dependent on patient effort or motivation, and lack sensitivity to small changes, or are invasive. Quantitative MRI to measure the fat replacement of skeletal muscle by either chemical shift imaging methods (Dixon or IDEAL) or spectroscopy has been demonstrated to provide such a sensitive, objective end-point in a number of studies. This review considers the importance of the outcome measures, discusses the considerations required to make robust measurements and appropriate quality assurance measures, and draws together the existing literature for cross-sectional and longitudinal cohort studies using these methods in muscular dystrophy.
Insights
Quantitative MRI offers a sensitive, objective method for assessing new muscular dystrophy therapies. This technique measures fat replacement in skeletal muscles, addressing limitations of current clinical assessments.
Area of Science:
- Neurology
- Medical Imaging
- Rare Diseases
Background:
- Muscular dystrophies are rare, progressive muscle-weakening diseases with over 70 variants.
- Duchenne muscular dystrophy is the most common, rapidly progressing form affecting young boys.
- No curative treatments exist, but novel therapies are in clinical trials.
Purpose of the Study:
- To review the importance of outcome measures for assessing new muscular dystrophy therapies.
- To discuss considerations for robust quantitative MRI measurements and quality assurance.
- To synthesize existing literature on MRI-based outcome measures in muscular dystrophy.
Main Methods:
- Quantitative MRI techniques, including chemical shift imaging (Dixon, IDEAL) and spectroscopy, measure skeletal muscle fat replacement.
- Review of cross-sectional and longitudinal cohort studies utilizing these MRI methods.
Main Results:
- Quantitative MRI provides a sensitive and objective endpoint for evaluating therapeutic efficacy.
- Current clinical measurements often lack sensitivity, are subjective, or invasive.
- MRI-based fat replacement quantification addresses these limitations.
Conclusions:
- Quantitative MRI is a promising tool for assessing novel muscular dystrophy treatments.
- Standardized measurement and quality assurance are crucial for reliable MRI endpoints.
- Further research and application of these methods will aid in drug development for muscular dystrophies.
