■Charcot-Marie-Tooth(CMT)病是最常见的遗传性神经肌肉疾病。多回波DixonMRI技术是一种用于量化肌肉脂肪浸润的高灵敏度方法,这可能为CMT的评估提供了极好的价值。由于这种疾病的稀缺性,它在CMT疾病中的应用很少被评估,尤其是在亚型中。
■34名CMT1患者,25名CMT2患者,招募了10名健康对照。所有招募的CMT1患者均为具有PMP22重复的CMT1A。在CMT2患者中,7例患者为具有MFN2突变的CMT2A,7例患者有SORD突变。进行多回波DixonMRI成像。在近端测量腿的5个肌肉隔室的脂肪分数(FFs),中间,和远端水平由两名专业的肌肉骨骼放射科医生。进行了CMT1,CMT2和遗传定义的亚型之间的比较。
■在CMT1中观察到近端-远端梯度(27.6±15.9、29.9±19.7和40.5±21.4,p=0.015),其中腓骨占优势(p=0.001)。近端的比目鱼肌FF的显着差异(19.1±14.7与34.8±25.1,p=0.034)和中间水平(23.5±21vs.在CMT1和CMT2患者之间观察到38.0±25.6,p=0.044)。在PMP2复制和MFN2突变组之间,也观察到比目鱼肌FF的显着差异(23.5±21.0与54.7±20.2,p=0.039)。观察到小腿肌肉FF与功能评分的显着相关性。
■多回波DixonMRI成像是评估CMT疾病严重程度的宝贵工具。首次报道了CMT亚型脂肪浸润模式的差异,为制定有针对性的培训计划提供参考。
UNASSIGNED: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder. Multi-echo Dixon MRI technique is a highly sensitive method for quantifying muscle fatty infiltration, which may provide excellent value for the assessment of CMT. Due to the rareness of the disease, its use in CMT disease has been rarely evaluated, especially in subtypes.
UNASSIGNED: Thirty-four CMT1 patients, 25 CMT2 patients, and 10 healthy controls were recruited. All of the recruited CMT1 patients are CMT1A with PMP22 duplication. Among CMT2 patients, 7 patients are CMT2A with MFN2 mutation, and 7 patients have SORD mutations. Multi-echo Dixon MRI imaging was performed. The fat fractions (FFs) of 5 muscle compartments of the leg were measured at proximal, middle, and distal levels by two specialized musculoskeletal radiologists. Comparisons between CMT1, CMT2, and genetically defined subtypes were conducted.
UNASSIGNED: A proximal-distal gradient (27.6 ± 15.9, 29.9 ± 19.7, and 40.5 ± 21.4, p = 0.015) with a peroneal predominance (p = 0.001) in fat distribution was observed in CMT1. Significant differences in the soleus muscle FFs at proximal (19.1 ± 14.7 vs. 34.8 ± 25.1, p = 0.034) and medial levels (23.5 ± 21 vs. 38.0 ± 25.6, p = 0.044) were observed between CMT1 and CMT2 patients. Between PMP2 duplication and MFN2 mutation group, a significant difference in the soleus muscle FF was also observed (23.5 ± 21.0 vs. 54.7 ± 20.2, p = 0.039). Prominent correlations of calf muscle FFs with functional scores were observed.
UNASSIGNED: Multi-echo Dixon MRI imaging is a valuable tool for assessing disease severity in CMT. The difference in patterns of fatty infiltration of CMT subtypes is first reported, which could provide references when making targeted training plans.