摘要腓骨肌萎缩症(Charcot-Marie-Tooth disease,CMT)是一组最常见的具有高度临床和遗传异质性的周围神经单基因遗传病.随着CMT不同基因亚型孤儿药物的研发,选用规范化的量表对于评估药物的治疗效果和临床自然病程至关重要.目前针对CMT患者的功能障碍严重程度、治疗效果、生活质量及预后等方面有不同类型的测评工具,文中我们对临床上常用的CMT相关测评量表进行了综述.

abstractsCharcot-Marie-Tooth (CMT) disease is the most common monogenic peripheral neuropathy with high clinical and genetic heterogeneity.With the development of orphan drugs for different genotypes of CMT,the use of standardized scales is essential for assessing the therapeutic effect of drugs and the natural course of the disease.At present,there are different types of outcome measures for assessing the severity of dysfunction,therapeutic effect,quality of life and prognosis of CMT patients.In this article the CMT-related assessment scales which are commonly used in clinical practice are reviewed.