Original Articles
Advances in MRI for Duchenne Muscular Dystrophy: A Case Series and Emerging Imaging Techniques | |
Dr. Kashi Nath Sarkar, Dr. Manisha Sarkar, Dr. Davidson Shandilya | |
Background: Duchenne Muscular Dystrophy (DMD) is an X-linked recessive neuromuscular disorder characterized by progressive muscle degeneration due to mutations in the dystrophin gene, leading to loss of ambulation and cardiopulmonary complications (1). MRI has emerged as a powerful non-invasive modality for early diagnosis, disease monitoring, and therapy evaluation (2,3). Objectives: This study aims to evaluate the role of conventional and quantitative MRI (qMRI) in assessing muscle pathology, fatty infiltration, fibrosis, and disease progression in genetically confirmed DMD patients. Methods: Four pediatric male patients (aged 6–10 years) with genetically confirmed DMD underwent lower limb MRI using T1-weighted, Short Tau Inversion Recovery (STIR), Dixon, and T2 mapping sequences. Results: • All cases exhibited bilateral symmetrical muscle atrophy and fatty infiltration. • Selective sparing of sartorius and gracilis muscles was noted in all cases. • Early joint contractures were identified in one patient. • qMRI (Dixon and T2 mapping) enhanced disease characterization and fibrosis detection. Conclusion: MRI, particularly qMRI, provides critical insights into disease severity and progression in DMD. Routine MRI-based monitoring should be incorporated into DMD management protocols to facilitate early intervention, therapeutic decision-making, and personalized treatment strategies. |
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