Abstract:
The research history of Duchenne muscular dystrophy (DMD) may be roughly divided into 3 phases: clinical describing (1836-1985), molecular diagnosis and exploratory therapy (1985-2020), and the pathogenesis illuminating, gene therapy or treatment against the pathogenesis (2020-). During 1836-1985, doctors described the variation of medical history, clinical signs and symptoms, pathology, biochemistry, and genetic regularity of DMD. During 1985-2020, the scientists set up molecular diagnostic methods and exploratory therapy regimens of DMD. After 2020, some gene therapies, for example, the regimens of exon skipping and reading through, may be used in clinical practice.
Key words:
Muscular dystrophy, Duchenne,
History of medicine,
Review
摘要:
Duchenne 型肌营养不良症的研究历程大致可以分为临床描述阶段(1836-1985 年)、分子诊断完善与治疗探索阶段(1985-2020 年),以及发病机制阐明、基因治疗或针对发病机制治疗阶段(2020 年以后)。1836-1985 年主要是对病史、临床症状与体征、病理学、生化学和遗传规律的描述,1985-2020 年主要是建立和完善基因诊断方法、探索治疗方案。2020 年后,基因治疗方法如外显子跳跃治疗和通读治疗有可能应用于临床。
关键词:
肌营养不良, 杜氏,
医学史,
综述
ZHANG Cheng. Yesterday, today and tomorrow of Duchenne muscular dystrophy[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2015, 15(5): 343-349.
张成. Duchenne型肌营养不良症昨天、今天和明天[J]. 中国现代神经疾病杂志, 2015, 15(5): 343-349.