Bushby Kate, Lochmüller Hanns, Lynn Stephen, Straub Volker
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK.
Lancet. 2009 Nov 28;374(9704):1849-56. doi: 10.1016/S0140-6736(09)61834-1.
Muscular dystrophies are individually rare genetic disorders that cause much chronic disability, affecting young children and adults. In the past 20 years, more than 30 genetic types of muscular dystrophy have been defined. During this time, precise diagnosis, genetic counselling, and medical management have improved. These advances in medical practice have occurred while definitive therapies based on an improved knowledge of disease pathogenesis are awaited. A wide range of therapeutic options have been tested in animal models, and some are being tested in clinical trials. Various therapeutic targets are being investigated, from personalised medicines targeting specific mutations and drugs targeting cellular pathways to gene-based and cell-based therapies.
肌肉萎缩症是一类罕见的遗传性疾病,会导致严重的慢性残疾,影响儿童和成人。在过去20年里,已确定了30多种基因类型的肌肉萎缩症。在此期间,精确诊断、遗传咨询和医疗管理都有所改善。这些医学实践上的进步是在等待基于对疾病发病机制更深入了解的确定性疗法的过程中取得的。一系列治疗方案已在动物模型中进行了测试,有些正在临床试验中进行测试。正在研究各种治疗靶点,从针对特定突变的个性化药物、针对细胞途径的药物到基于基因和细胞的疗法。