Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD; Departments of Neurology, Johns Hopkins School of Medicine, Baltimore, MD.
Ann Neurol. 2013 Sep;74(3):404-11. doi: 10.1002/ana.23989.
The muscular dystrophies comprise a heterogeneous group of genetic disorders that produce progressive skeletal muscle weakness and wasting. There has been rapid growth and change in our understanding of these disorders in recent years, and advances in basic science are being translated into increasing numbers of clinical trials. This review will discuss therapeutic developments in 3 of the most common forms of muscular dystrophy: Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. Each of these disorders represents a different class of genetic disease (monogenic, epigenetic, and repeat expansion disorders), and the approach to therapy addresses the diverse and complex molecular mechanisms involved in these diseases. The large number of novel pharmacologic agents in development with good biologic rationale and strong proof of concept suggests there will be an improved quality of life for individuals with muscular dystrophy.
肌肉萎缩症包括一组异质性遗传疾病，这些疾病会导致进行性骨骼肌无力和萎缩。近年来，我们对这些疾病的认识有了迅速的发展和变化，基础科学的进步正在转化为越来越多的临床试验。本综述将讨论 3 种最常见的肌肉萎缩症的治疗进展：杜氏肌营养不良症、面肩肱型肌营养不良症和强直性肌营养不良症。这些疾病中的每一种都代表着不同类型的遗传疾病（单基因、表观遗传和重复扩展疾病），治疗方法针对这些疾病中涉及的不同且复杂的分子机制。有大量新型药物制剂正在开发中，具有良好的生物学原理和强大的概念验证，这表明肌肉萎缩症患者的生活质量将会提高。
