Abstract：
Fukuyama-type congenital muscular dystrophy (FCMD) is severe, childhood-onset muscular dystrophy. Recently, our group has discovered a potential treatment using antisense oligonucleotides. Therefore, an effective, reliable, and objective method of assessing muscle is needed. Ultrasound is a minimally invasive tool that can be applied without radiation exposure or pain. Evaluating tissue stiffness by shear wave elastography (SWE) has especially recently attracted attention. Here, we aimed to evaluate SWE value of the upper limb muscles: biceps brachii, triceps brachii, brachioradialis, abductor pollicis brevis, and abductor finger muscle in patients with FCMD. Upper extremity function was evaluated by visual muscle ultrasound analysis (VMUA) and SWE in 13 patients with FCMD and 20 healthy controls. The motor function evaluation tool was used to evaluate motor function, and the correlation with the dynamics of the SWE was determined. VMUA scaled using the Heckmatt scale was higher in patients with FCMD. SWE was also significantly higher and stiffer in the biceps brachii and brachioradialis in patients with FCMD. Furthermore, the severity of FCMD symptoms was correlated with muscle stiffness. We conclude that VMUA and SWE can be useful tools for monitoring muscle atrophy and upper limb function in patients with FCMD.
摘要：
福山型先天性肌营养不良（FCMD）是严重的，儿童期发病的肌营养不良。最近,我们小组发现了一种使用反义寡核苷酸的潜在治疗方法.因此,一个有效的,可靠,和评估肌肉的客观方法是必要的。超声是一种微创工具，可以在没有辐射暴露或疼痛的情况下应用。通过剪切波弹性成像（SWE）评估组织硬度最近尤其引起了人们的关注。这里,我们的目的是评估上肢肌肉的SWE值：肱二头肌，肱三头肌,腕臂，绑架者Pollicisbrevis,FCMD患者的外展指肌。通过视觉肌肉超声分析（VMAA）和SWE评估了13例FCMD患者和20例健康对照者的上肢功能。运动功能评估工具用于评估运动功能，并确定了与SWE动力学的相关性。FCMD患者使用Heckmatt量表进行评估的VMUA较高。FCMD患者的肱二头肌和肱背肌的SWE也显着更高和更硬。此外，FCMD症状的严重程度与肌肉僵硬相关.我们得出的结论是，VMUA和SWE可以成为监测FCMD患者肌肉萎缩和上肢功能的有用工具。
