Shahrizaila N, Noto Y, Simon N G, Huynh W, Shibuya K, Matamala J M, Dharmadasa T, Devenney E, Kennerson M L, Nicholson G A, Kiernan M C
Brain and Mind Centre, University of Sydney, Camperdown, Australia; Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Brain and Mind Centre, University of Sydney, Camperdown, Australia.
Clin Neurophysiol. 2017 Jan;128(1):227-232. doi: 10.1016/j.clinph.2016.11.010. Epub 2016 Nov 21.
The utility of quantitative muscle ultrasound as a marker of disease severity in Charcot-Marie-Tooth (CMT) disease subtypes was investigated.
Muscle ultrasound was prospectively performed on 252 individual muscles from 21 CMT patients (9 CMT1A, 8 CMTX1, 4 CMT2A) and compared to 120 muscles from 10 age and gender-matched controls. Muscle ultrasound recorded echogenicity and thickness in representative muscles including first dorsal interosseus (FDI) and tibialis anterior (TA).
Muscle volume of FDI and thickness of TA correlated with MRC strength. Muscle echogenicity was significantly increased in FDI (65.05 vs 47.09; p<0.0001) and TA (89.45 vs 66.30; p<0.0001) of CMT patients. In TA, there was significantly higher muscle thickness (23 vs 18 vs 16mm; p<0.0001) and lower muscle echogenicity (80 vs 95 vs 108; p<0.0001) in CMT1A compared to CMTX1 and CMT2A. This corresponded to disease severity based on muscle strength (MRC grading CMT1A vs CMTX1 vs CMT2A: 59 vs 48 vs 44; p=0.002).
In CMT, quantitative muscle ultrasound of FDI and TA is a useful marker of disease severity.
The current findings suggest that quantitative muscle ultrasound has potential as a surrogate marker of disease progression in future interventional trials in CMT.
研究定量肌肉超声作为夏科-马里-图思（CMT）病亚型疾病严重程度标志物的效用。
对21例CMT患者（9例CMT1A、8例CMTX1、4例CMT2A）的252块肌肉进行前瞻性肌肉超声检查，并与10例年龄和性别匹配的对照者的120块肌肉进行比较。肌肉超声记录了包括第一背侧骨间肌（FDI）和胫前肌（TA）在内的代表性肌肉的回声性和厚度。
FDI的肌肉体积和TA的厚度与医学研究委员会（MRC）肌力相关。CMT患者的FDI（65.05对47.09；p<0.0001）和TA（89.45对66.30；p<0.0001）的肌肉回声性显著增加。在TA中，与CMTX1和CMT2A相比，CMT1A的肌肉厚度显著更高（23对18对16mm；p<0.0001），肌肉回声性更低（80对95对108；p<0.0001）。这与基于肌力的疾病严重程度相对应（MRC分级CMT1A对CMTX1对CMT2A：59对48对44；p=0.002）。
在CMT中，FDI和TA的定量肌肉超声是疾病严重程度的有用标志物。
目前的研究结果表明，定量肌肉超声在未来CMT的介入试验中有可能作为疾病进展的替代标志物。
