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Updated: Jan 26, 2026
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Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease
Published on: December 18, 2016
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Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.
David Tobaly1, Pascal Laforêt2,3, Ariane Perry4
1APHP, Service de Radiologie GHU PIFO pôle neuro-locomoteur, Hôpital Raymond Poincaré, Garches, France.
Muscle & Nerve
|April 12, 2019
Summary
Whole-body MRI scans reveal fatty replacement in muscles of patients with glycogen-storage disease type III (GSDIII). Findings highlight specific muscle groups affected, aiding in disease understanding and management.
Area of Science:
- Biomedical Imaging
- Neuromuscular Disorders
- Metabolic Diseases
Background:
- Glycogen-storage disease type III (GSDIII) is a rare genetic disorder affecting glycogen metabolism.
- Muscle weakness and atrophy are key clinical manifestations of GSDIII.
Purpose of the Study:
- To characterize muscle involvement in GSDIII using whole-body MRI.
- To correlate MRI findings with disease stage and clinical presentation.
Main Methods:
- Fifteen adult patients with GSDIII underwent whole-body MRI at 3-T.
- Coronal and axial T1-weighted/Dixon fat images were analyzed for fatty replacement in 47 muscles using Mercuri's classification.
Main Results:
- Fatty replacement predominantly affected lower limb and postural muscles.
- Specific muscles like soleus, gastrocnemius medial head, and thoracic extensors showed recurrent changes.
- Heatmap scores correlated with the distribution of signal alterations.
Conclusions:
- Whole-body MRI is a valuable tool for assessing muscle involvement in GSDIII.
- MRI findings provide clinically relevant information for patient management.
- A standardized severity score could enhance patient care.
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