脊髓性肌萎缩症的运动功能评估及临床研究进展

Research progress on motor function assessments and their clinical applications in spinal muscular atrophy

脊髓性肌萎缩症(SMA)是一种常见的常染色体隐性遗传病,临床特征主要表现为进行性肌无力和肌萎缩。SMA分型较多,运动功能涉及广泛。目前,针对SMA运动功能评价内容主要包括肌肉力量、步行能力、活动能力等,但尚未达成共识。本文旨在综述目前SMA患者常用的运动功能相关评估工具及其应用进展。

Spinal muscular atrophy(SMA) is an autosomal recessive genetic disease mainly characterized by progressive muscle weakness and atrophy.SMA has a large number of subtypes and a wide range of motor functions involved.Currently, the assessment of motor function for SMA mainly includes muscle strength, walking ability and mobility, but no consensus has been reached.This review aims to provide a brief overview of current assessment tools related to motor function commonly used in SMA patients.