Objective: To retrospectively analyze the clinical characteristic, gene mutation and treatment of 18 children with Duchenne muscular dystrophy(DMD) and provide a basic knowledgel for early diagnosis and effective treatment. Methods: A retrospective analysis was performed on the clinical features of 17 DMD boys and one carrier girl who were admitted to the First Affliated Hospital of Nanjing Medical University from January 2010 to June 2022. Results: The mean age of diagnosis of DMD was 5.9 years(1 month to 12 years),the carrier was 6 years old. Laboratory results showed that alanine aminotransferase(ALT), aspartate aminotransferase(AST), lactate dehydrogenase(LDH), α-hydroxybutyrate dehydrogenase(HBDH), creatine kinase isoenzyme(CKMB), creatine kinase(CK) were remarkably increased,especially CK was 3.7-102 times the normal level. Gene was tested in all 18 patients, including 83.3%(15/18) deletion mutations, among which exon 45-55 deletion accounted for 41%,11.1%(2/18) duplicate mutations,and 5.5%(1/18) intron splicing mutations. 13 cases were verified by maternal genetic testing, and 3 cases had no DMD gene mutation. One patient underwent muscle biopsy of the biceps brachialis of the left upper limb, and the pathological changes were muscle fiber atrophy, newly developed muscle fiber, and reduced or absent expression of dystrophin protein of focal myofilament. Four electromyography tests suggested myogenic damage. Three dimensional gait analysis of DMD child suggested poor recruitment of some muscle groups in both lower limbs, mainly rectus femoris and biceps femoris. CK in one case declined by 77.0% 5 days after umbilical cord blood mesenchymal stem cell therapy. Conclusion: For children with abnormal serum muscle enzymes and motor function, DMD should be diagnosed by genetic testing as early as possible with vigilance. Genetic counseling and prenatal diagnosis are needed in the family with female carriers. |
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