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Updated: Jun 24, 2026

Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease
Published on: December 18, 2016
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation
Luke F O'Donnell1, Menelaos Pipis1, John S Thornton1
1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Artificial intelligence significantly improves fat fraction MRI analysis for Charcot-Marie-Tooth disease 1A (CMT1A) patients. Automated segmentation is efficient and accurate for detecting disease progression in lower limb muscles.
Area of Science:
- Biomedical Imaging
- Neurology
- Artificial Intelligence
Background:
- Lower limb muscle fat fraction (FF) MRI detects Charcot-Marie-Tooth disease 1A (CMT1A) progression.
- Manual segmentation for FF MRI analysis is time-consuming.
Purpose of the Study:
- To assess the responsiveness, efficiency, and accuracy of AI-enabled automated segmentation for FF MRI in CMT1A patients.
Main Methods:
- Recruited 20 CMT1A patients and 7 controls for 12-month assessments.
- Used three-point-Dixon technique for thigh and calf FF MRI.
- Employed Musclesense AI for automated lower limb muscle segmentation with quality control (QC).
Main Results:
- Mean calf FF significantly increased in CMT1A patients over 12.5 months (1.15%±1.77%, p=0.016).
- Automated segmentation with QC showed a standardized response mean (SRM) of 0.65.
- Without QC, FF change was nearly identical (1.15%±1.68%, p=0.01) with a similar SRM of 0.69.
Conclusions:
- AI-enabled automated segmentation is efficient and accurate for longitudinal FF MRI studies in CMT.
- Minimal QC time is required, and corrections are infrequent.
- This technique offers a viable method for assessing CMT1A progression.
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