Department of Clinical Medicine and Neuroscience, CUNY School of Medicine, New York, NY, United States; Department of Medicine, Section of Internal Medicine and Neurology, White Plains Hospital, White Plains, NY, United States.
Handb Clin Neurol. 2023;195:315-358. doi: 10.1016/B978-0-323-98818-6.00007-8.
Neuromuscular disorders encompass a diverse group of acquired and genetic diseases characterized by loss of motor functionality. Although cure is the goal, many therapeutic strategies have been envisioned and are being studied in randomized clinical trials and entered clinical practice. As in all scientific endeavors, the successful clinical translation depends on the quality and translatability of preclinical findings and on the predictive value and feasibility of the clinical models. This chapter focuses on five exemplary diseases: childhood spinal muscular atrophy (SMA), Charcot-Marie-Tooth (CMT) disorders, chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), acquired autoimmune myasthenia gravis (MG), and Duchenne muscular dystrophy (DMD), to illustrate the progress made on the path to evidenced-based therapy.
神经肌肉疾病包括一组不同的获得性和遗传性疾病,其特征是运动功能丧失。虽然治愈是目标,但许多治疗策略已经被设想出来,并在随机临床试验中进行研究并进入临床实践。与所有科学努力一样,成功的临床转化取决于临床前发现的质量和可翻译性,以及临床模型的预测价值和可行性。本章以五种典型疾病为例:儿童脊髓性肌萎缩症(SMA)、Charcot-Marie-Tooth(CMT)疾病、慢性炎症性脱髓鞘性多发性神经病(CIDP)、获得性自身免疫性重症肌无力(MG)和杜氏肌营养不良症(DMD),来说明在循证治疗道路上取得的进展。