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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
[Clinical and pathological features of 50 children with Duchenne's muscular dystrophy]
Qiu-Xiang Li1, Huan Yang, Ning Zhang
1Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
Insights
Early diagnosis of Duchenne muscular dystrophy (DMD) in children is possible through recognizing clinical signs and confirming dystrophin deficiency via muscle biopsy and immunohistochemical staining.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Context:
- Duchenne muscular dystrophy (DMD) is a severe genetic disorder affecting children.
- Early and accurate diagnosis is crucial for managing the condition and improving patient outcomes.
Purpose:
- To elucidate the clinical and pathological characteristics of DMD in pediatric patients.
- To enhance the early diagnostic capabilities for Duchenne muscular dystrophy.
Summary:
- This study reviewed 50 pediatric cases of Duchenne muscular dystrophy, analyzing clinical manifestations, serum creatine kinase levels, electromyography, and skeletal muscle biopsy findings.
- Pathological examination revealed characteristic muscle fiber abnormalities, inflammation, and connective tissue proliferation.
- Crucially, all patients exhibited a complete absence of dystrophin expression, with reduced sarcoglycan expression in a subset, confirming DMD diagnosis.
Impact:
- Highlights the importance of specific clinical and pathological markers for timely DMD diagnosis in children.
- Emphasizes the diagnostic utility of skeletal muscle biopsy and immunohistochemical staining for identifying dystrophin deficiency.
- Aids clinicians in earlier identification and management of Duchenne muscular dystrophy, potentially improving long-term prognosis.
Objective:
To study the clinical and pathological features of children with Duchenne muscular dystrophy (DMD), with the aim of increasing the possibility of early diagnosis.
Methods:
The clinical data of 50 children who were definitely diagnosed with DMD, based on clinical manifestations and the results of skeletal muscle biopsies and monoclonal antibody immunohistochemical staining, was reviewed.
Results:
The children showed similar clinical manifestations, including running slowly in the toddler period, muscle weakness when climbing stairs and standing up followed by squatting down and walking abnormalities a predominant increase in serum creatine kinase level increased dominantly, and myopathic lesions seen on electromyography. Hematoxylin-eosin staining showed similar pathological presentations in all 50 children, including different-sized muscle fibers with rounding, degeneration and necrosis in various degrees, and proliferation of connective tissues. There was some inflammatory cell infiltration in muscle fibers and interstitial tissues. Dystrophin expression was completely absent at the sarcolemma in all 50 children, and sarcoglycan-α,-β, -',-δ expression was reduced to various degrees in 33 of them.
Conclusions:
For children with the clinical manifestations mentioned above, skeletal muscle biopsies and monoclonal antibody immunohistochemical staining are recommended as these examinations contribute to a definite diagnosis of DMD by demonstrating dystrophin deficiency at the sarcolemma.
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