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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Muscle histology vs MRI in Duchenne muscular dystrophy
M Kinali1, V Arechavala-Gomeza, S Cirak
1The Dubowitz Neuromuscular Centre, Institute of Child Health, London, UK.
Objective:
There are currently no effective treatments to halt the muscle breakdown in Duchenne muscular dystrophy (DMD), although genetic-based clinical trials are being piloted. Most of these trials have as an endpoint the restoration of dystrophin in muscle fibers, hence requiring sufficiently well-preserved muscle of recruited patients. The choice of the muscles to be studied and the role of noninvasive methods to assess muscle preservation therefore require further evaluation.
Methods:
We studied the degree of muscle involvement in the lower leg muscles of 34 patients with DMD >8 years, using muscle MRI. In a subgroup of 15 patients we correlated the muscle MRI findings with the histology of open extensor digitorum brevis (EDB) muscle biopsies. Muscle MRI involvement was assigned using a scale 0-4 (normal-severe).
Results:
In all patients we documented a gradient of involvement of the lower leg muscles: the posterior compartment (gastrocnemius > soleus) was most severely affected; the anterior compartment (tibialis anterior/posterior, popliteus, extensor digitorum longus) least affected. Muscle MRI showed EDB involvement that correlated with the patient's age (p = 0.055). We show a correlation between the MRI and EDB histopathologic changes, with MRI 3-4 grades associated with a more severe fibro-adipose tissue replacement. The EDB was sufficiently preserved for bulk and signal intensity in 18/22 wheelchair users aged 10-16.6 years.
Conclusion:
This study provides a detailed correlation between muscle histology and MRI changes in DMD and demonstrates the value of this imaging technique as a reliable tool for the selection of muscles in patients recruited into clinical trials.
Insights
Muscle MRI accurately assesses muscle preservation in Duchenne muscular dystrophy (DMD) patients, aiding clinical trial recruitment. This noninvasive method helps identify suitable muscles for gene therapy trials by correlating MRI findings with histology.
Area of Science:
- Neurology
- Medical Imaging
- Genetics
Background:
- Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disease with no current treatments to halt muscle breakdown.
- Genetic-based clinical trials are emerging, focusing on dystrophin restoration, necessitating well-preserved muscle tissue in participants.
- Selecting appropriate muscles for study and utilizing noninvasive assessment methods are critical for trial success.
Purpose of the Study:
- To evaluate the utility of muscle magnetic resonance imaging (MRI) in assessing muscle involvement in Duchenne muscular dystrophy (DMD).
- To correlate muscle MRI findings with histological data from muscle biopsies.
- To determine the reliability of MRI for selecting patients and muscles for clinical trials.
Main Methods:
- 34 patients with DMD over 8 years old underwent lower leg muscle MRI.
- A subgroup of 15 patients had their MRI findings correlated with extensor digitorum brevis (EDB) muscle histology.
- Muscle MRI involvement was graded on a scale of 0-4 (normal to severe).
Main Results:
- A gradient of muscle involvement was observed, with posterior compartment muscles more affected than anterior compartment muscles.
- EDB muscle MRI findings correlated with patient age.
- MRI grades 3-4 indicated significant fibro-adipose tissue replacement, correlating with histological changes.
- The EDB muscle remained sufficiently preserved in 18/22 wheelchair users aged 10-16.6 years.
Conclusions:
- Muscle MRI provides a detailed correlation with muscle histology in DMD patients.
- This noninvasive imaging technique is a valuable tool for selecting muscles in patients for clinical trials.
- MRI can reliably assess muscle preservation, aiding in patient stratification for therapeutic interventions.
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