女性杜氏肌营养不良症1例并文献复习

Female Duchenne Muscular Dystrophy—One Case Report and Review Literature

目的:研究女性杜氏肌营养不良症(Duchenne muscular dystrophy,DMD)患者的临床特征,探讨其可能的发病机理。方法:对1例具有典型DMD症状和体征的18岁女性患者进行血清肌酶、心电图、肌电图和染色体检查。结果:该患者血清肌酶显著增高,肌电图为肌源性损害表现,核型分析正常。结论:该患者具有典型的DMD临床表现,核型分析正常,考虑XP21/常染色体易位或单亲二倍体是其可能的机理,需作进一步研究。

Objective：To investigate the clinical characteristics of female Duchenne muscular dystrophy（DMD）,and search for the possible onset mechanism.Method：A female patient aged 18 with typical DMD symptoms and signs received the lab tests of serum CK,LDH,HBDH,the electrocardiogram,the electromyogram and the chromosome analysis.Results：The level of serum CK,LDH,HBDH predominantly elevated,the electromyogram showed as typical muscle originated lesions and the patient＇s karyotype was found to be normal.Conclusion：The patient was in accordance with the typical manifestations of DMD,the karyotype was normal.The present authors assume that the XP21/autosome translocation or uniparental disomy of the entire X chromosome is the likely mechanism.The further research is needed.