Duchenne型肌营养不良症(DMD)是中国最常见的X连锁隐性遗传性肌病,该疾病除影响肌肉系统外,也可累及中枢神经系统,常表现为精神发育迟缓,约1/3的患儿有智力障碍。上海交通大学医学院附属瑞金医院神经内科自2000年建立肌病专科门诊至今,共诊断并治疗110例DMD患者,仅2例合并癫大发作,现报道如下。1临床资料1.1病例1 1993年2月出生,顺产,足月儿,无产钳史。生长发育较同龄儿童慢,3岁学会走路,无兄弟姐妹;否认家族遗传史。2000年5月,因“进行性双下肢乏力伴行路 Duchenne muscular dystrophy (DMD) is China’s most common X-linked recessive myopathies, the disease in addition to affecting the muscular system can also affect the central nervous system, often manifested as mental retardation, about 1/3 Children with mental retardation. Department of Neurology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine Since 2000, myopia specialist clinic has been established to diagnose and treat 110 patients with DMD. Only 2 patients with epileptic seizures are reported as follows. 1 Clinical data 1.1 Case 1 was born in February 1993, spontaneous abortion, full-term children, history of unprovoked pliers. Growth and development slower than the same age children, 3-year-old learn to walk, no siblings; denied family history. May 2000, due to ”progressive lower extremity accompanied by weakness