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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
Duchenne muscular dystrophy: Case report and review
Rupam Sinha1, Soumyabrata Sarkar1, Tanya Khaitan1
1Department of Oral Medicine and Radiology, Haldia Institute of Dental Sciences and Research, Haldia, West Bengal, India.
Insights
Duchenne muscular dystrophy (DMD) is a progressive muscle-weakening disorder. This case study highlights a 12-year-old boy with DMD, focusing on his unique clinical and oral symptoms.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Muscular dystrophies encompass diverse disorders marked by progressive muscle weakness.
- Duchenne muscular dystrophy (DMD) is the most prevalent X-linked muscular dystrophy in children, typically diagnosed in early childhood.
- DMD presents with proximal muscle weakness, calf hypertrophy, delayed motor development, and potential cardiac/respiratory complications.
Observation:
- This report details a case of DMD in a 12-year-old male patient.
- The case exhibits notable clinical and oral manifestations associated with the disorder.
- Current treatments like corticosteroids and ventilation offer symptomatic relief but not a cure.
Findings:
- The case underscores the varied clinical spectrum of Duchenne muscular dystrophy.
- Specific attention is given to the oral health aspects in pediatric DMD patients.
- The study emphasizes the importance of comprehensive patient evaluation.
Implications:
- Understanding DMD's clinical heterogeneity is crucial for effective management.
- Further research into novel therapies is essential for a potential cure.
- This case contributes to the knowledge base for managing pediatric DMD, including oral health considerations.
Abstract:
Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. Duchenne muscular dystrophy (DMD) is the most common X-linked disorder muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. There is usually delay in motor development and eventually wheelchair confinement followed by premature death from cardiac or respiratory complications. Treatment modalities such as corticosteroid therapy and use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life, and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. Here, we present a case of DMD in a 12-year-old male with remarkable clinical and oral manifestations.
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