Department of Neurology, Cambridge Health Alliance, 1493 Cambridge St, Cambridge, MA, 02139, USA.
Department of Neurology, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02116, USA.
Curr Neurol Neurosci Rep. 2020 May 14;20(6):14. doi: 10.1007/s11910-020-01034-6.
Muscular dystrophies are a heterogeneous group of inherited muscular disorders characterized by progressive muscle weakness and in many cases cardiac and respiratory muscle involvement. Historically, these disorders are considered incurable with grave prognoses. The genes responsible for most muscular dystrophies are known, and early diagnosis is achievable with proper clinical recognition and advanced genetic testing. This article reviews recent advances in the development of novel treatments and biomarkers in the realm of muscular dystrophies commonly encountered in pediatric population.
The therapeutic landscape of muscular dystrophies has changed with the development of new approved treatments for Duchenne muscular dystrophy (DMD), the most common and severe muscular dystrophy. This has paved the way for the development of novel therapeutic strategies for not only DMD but also other muscular dystrophies. This article reviews recent advances in the development of novel treatments and biomarkers in the realm of muscular dystrophies commonly encountered in pediatric population.
肌肉萎缩症是一组异质性遗传性肌肉疾病，其特征为进行性肌肉无力，在许多情况下还会累及心脏和呼吸肌。从历史上看，这些疾病被认为是无法治愈的，预后严重。大多数肌肉萎缩症的相关基因已被确定，通过适当的临床识别和先进的基因检测可以实现早期诊断。本文综述了儿科常见肌肉萎缩症领域新型治疗方法和生物标志物的最新进展。
随着针对最常见和最严重的肌肉萎缩症——杜氏肌营养不良症（DMD）的新型获批疗法的出现，肌肉萎缩症的治疗领域发生了变化。这为不仅针对 DMD 而且针对其他肌肉萎缩症的新型治疗策略的发展铺平了道路。本文综述了儿科常见肌肉萎缩症领域新型治疗方法和生物标志物的最新进展。
