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[A retrospective analysis of 6 children with Duchenne muscular dystrophy]
Yu-Jie Yin1, Yu-Ping Huang, Chao Lu
1Department of Pediatrics, First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China. guopzhou@126.com.
Insights
Early diagnosis of Duchenne muscular dystrophy (DMD) in boys is crucial. Prompt creatine kinase (CK) and DMD gene detection, alongside early intervention, can help manage the condition and protect muscle fibers.
Area of Science:
- Pediatrics
- Genetics
- Neurology
Background:
- Duchenne muscular dystrophy (DMD) is a severe genetic disorder.
- Early diagnosis and intervention are critical for managing DMD progression.
Purpose of the Study:
- To analyze clinical features of 6 pediatric DMD cases.
- To provide a basis for early diagnosis and effective treatment of DMD.
Main Methods:
- Retrospective analysis of clinical data from 6 DMD patients (2010-2015).
- Review of related literature on DMD.
Main Results:
- All 6 patients were boys, diagnosed between 1.2-11.5 years.
- Elevated serum enzymes, especially creatine kinase (CK) (3.3-107.2x normal), were observed.
- DMD gene mutations confirmed in all patients; mothers carried mutations in two cases. One patient showed CK reduction post-stem cell therapy.
Conclusions:
- Suspect DMD in boys with abnormal serum enzymes and motor function.
- Confirm diagnosis with CK and DMD gene testing.
- Early intervention can delay disease progression by protecting muscle fibers.
Objective:
To analyze the clinical features of 6 children with Duchenne muscular dystrophy (DMD) and review related literature, and to provide a basis for early diagnosis and effective treatment of this disease.
Methods:
A retrospective analysis was performed on the clinical data of 6 children with DMD who were admitted to the First Affiliated Hospital of Nanjing Medical University from January 2010 to October 2015.
Results:
All the 6 cases were boys without a family history of DMD, and the age of diagnosis of DMD was 1.2-11.5 years. All patients had insidious onset and increases in alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, α-hydroxybutyrate dehydrogenase, creatine kinase (CK), and creatine kinase-MB, particularly CK, which was 3.3-107.2 times the normal level. Their gene detection results all showed DMD gene mutation. The gene detection results of two children's mothers showed that they carried the same mutant gene. The muscle biopsy in one case showed that the pathological changes confirmed the diagnosis of DMD. The level of CK in one case declined by 77.0% 5 days after umbilical cord blood mesenchymal stem cell transplantation.
Conclusions:
For boys with abnormal serum enzyme levels and motor function, DMD should be highly suspected. It should be confirmed by CK and DMD gene detection as soon as possible. And the progression of the disease could be delayed by early intervention for protecting the remaining normal muscle fibers.