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Rehabilitation Strategies in a Paediatric Case of Duchenne Muscular Dystrophy Presenting with Toe Walking and Seizures: a case report


Author: Upasna Parashar, Dimple Choudhry*, Meetu Nagpal, Anamika Singh
Published Date: 2025-05-20
Keywords: seizures, milestones, dystropin, delta- sarcoglycan, physiotherapy.
Abstract:
Background: Duchenne Muscular Dystrophy (DMD) is a progressive X-linked recessive neuromuscular disorder characterized by the absence of functional dystrophin protein, leading to degeneration of skeletal and cardiac muscle fibers. Early clinical signs such as toe walking, delayed motor milestones, and frequent falls are often subtle and may be mistaken for benign developmental variations, contributing to delayed diagnosis. Case Presentation: We report the case of a 9-year-old boy referred to the physiotherapy department with persistent gait abnormalities and a history of seizures starting at 1.5 years of age. Early motor development was globally delayed, with sustained toe walking noted throughout early childhood. Muscle biopsy revealed a significant reduction in delta-sarcoglycan expression, raising suspicion for dystrophinopathy. Genetic testing confirmed the diagnosis of DMD. Further evaluation revealed subtle white matter changes on brain MRI, minor cardiac involvement on echocardiography, and early respiratory compromise. Discussion: This case highlights an atypical presentation of DMD, complicated by early-onset seizures, and underscores the diagnostic challenges in such presentations. The physiotherapist played a pivotal role in early recognition of red flags during gait assessment, which facilitated timely referral for multidisciplinary evaluation. Conclusion: Early identification and intervention are critical in DMD to optimize functional outcomes and initiate supportive management. This case reinforces the importance of a multidisciplinary approach—including physiotherapy, neurology, cardiology, pulmonology, and genetics—in managing complex neuromuscular disorders and improving quality of life.

Journal: ISAR Journal of Medical and Pharmaceutical Sciences
ISSN(Online): 2584-0150
Publisher: ISAR Publisher
Frequency: Monthly
Language: English

Rehabilitation Strategies in a Paediatric Case of Duchenne Muscular Dystrophy Presenting with Toe Walking and Seizures: a case report
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