神经肌肉疾病骨骼肌结构与功能的定量超声研究进展

Quantitative ultrasound for skeletal muscle structure and function of neuromuscular diseases:research progress

神经肌肉疾病(NMD)是一种异质性疾病,可累及包括运动神经元、感觉神经元、肌肉及神经肌肉接头在内的周围神经系统,严重影响患者的生活质量,且结局不可逆转。早期诊断、早期治疗对NMD治疗策略的制定和患者生活质量的保障非常关键。以往NMD的诊断主要依靠血清肌酸激酶检测、肌电图、神经传导速度测定、基因检测及肌肉活检,但这些方法的诊断效能不高或有创或受基因变异影响。近年来,骨骼肌超声成像越来越多地被用作NMD临床和电生理检查的有益补充,但对于骨骼肌结构与功能的定量评估研究有待深入。本文就定量超声在NMD骨骼肌结构与功能评估中的研究现状进行综述。

Neuromuscular disease(NMD)is a heterogeneous disease that can affect the peripheral nervous system including motor neurons,sensory neurons,muscles and neuromuscular junctions,seriously affecting the quality of life of patients,and its outcome is irreversible.Early diagnosis and treatment are critical to the formulation of NMD treatment strategies and the guarantee of quality of life of patients.In the past,the diagnosis of NMD mainly relied on the determination of creatine kinase,electromyography,the measurement of nerve conduction velocity,genetic testing,and muscle biopsy.However,these methods are not effective or invasive or affected by gene variation.In recent years,skeletal muscle ultrasound imaging has been increasingly used as a useful supplement to clinical and electrophysiological examination of NMD,but the quantitative evaluation of skeletal muscle structure and function needs to be detailed.This article reviews the current research status of quantitative ultrasound in the evaluation of skeletal muscle structure and function of NMD.