摘要Duchenne和Becker肌营养不良(Duchenne/Becker muscular dystrophy,DMD/BMD)为dystrophin基因变异所致的X伴性隐性遗传病,主要影响男性患者,而20％左右的女性携带者表现出不同的临床症状,如肌无力、心脏受累、认知功能障碍、肌肉疼痛或痉挛等,伴有血清肌酸激酶的升高和肌肉病理的改变.倾斜的X染色体失活是主要的发病机制,在一些病例报道中也发现了一些特殊的核型导致疾病的进展.由于有症状的携带者发病率低、临床表现差异较大,且临床缺少规范的诊治管理和随访评估的经验,因此经常得不到及时准确的诊治.该文对女性携带者的症状、诊断及发病机制进行综述.

abstractsDuchenne and Becker muscular dystrophies,due to genovariation of the dystrophin gene,are X-linked recessively inherited progressive neuromuscular diseases and affect mainly male individuals.While it is estimated that 20％ of female carriers may have various symptoms.The clinical picture of carriers includes muscle weakness,cardiac involvement,cognitive impairment and muscle cramps/myalgias,as well as an elevated serum creatine kinase level and dystrophin abnormalities in muscle tissue.Apart from some cases associated with chromosome aberrations,the pathogenesis in most female carriers are caused by skewed X inactivation.Given the low incidence of manifesting carriers and the wide spectrum of phenotypes,the diagnosis and treatment may be delayed.In addition,there is little experience to guide management and predict prognosis.