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Abstract：
This study was designed to analyze the sensitivity, specificity, and accuracy of jitter parameters combined with repetitive nerve stimulation (RNS) in congenital myasthenic syndrome (CMS), chronic progressive external ophthalmoplegia (CPEO), and congenital myopathies (CM). Jitter was obtained with a concentric needle electrode during voluntary activation of the Orbicularis Oculi muscle in CMS (n = 21), CPEO (n = 20), and CM (n = 18) patients and in controls (n = 14). RNS (3 Hz) was performed in six different muscles for all patients (Abductor Digiti Minimi, Tibialis Anterior, upper Trapezius, Deltoideus, Orbicularis Oculi, and Nasalis). RNS was abnormal in 90.5% of CMS patients and in only one CM patient. Jitter was abnormal in 95.2% of CMS, 20% of CPEO, and 11.1% of CM patients. No patient with CPEO or CM presented a mean jitter higher than 53.6 µs or more than 30% abnormal individual jitter (> 45 µs). No patient with CPEO or CM and mild abnormal jitter values presented an abnormal decrement. Jitter and RNS assessment are valuable tools for diagnosing neuromuscular transmission abnormalities in CMS patients. A mean jitter value above 53.6 µs or the presence of more than 30% abnormal individual jitter (> 45 µs) strongly suggests CMS compared with CPEO and CM.
摘要：
本研究旨在分析敏感性，特异性，先天性肌无力综合征（CMS）中抖动参数与重复神经刺激（RNS）的准确性，慢性进行性眼外肌麻痹（CPEO），和先天性肌病（CM）。在CMS（n=21）中自发激活眼轮肌时，用同心针电极获得了抖动，CPEO（n=20），和CM（n=18）患者和对照组（n=14）。RNS（3Hz）在所有患者的六种不同肌肉中进行（外展人DigitiMinimi，胫骨前肌,斜方上肌,Deltoideus,眼轮匝肌,和Nasalis）。90.5%的CMS患者和仅1例CM患者的RNS异常。95.2%的CMS出现抖动异常,20%的CPEO，和11.1％的CM患者。没有CPEO或CM患者出现高于53.6µs的平均抖动或超过30%的异常个体抖动(>45µs)。没有具有CPEO或CM和轻度异常抖动值的患者呈现异常递减。抖动和RNS评估是诊断CMS患者神经肌肉传递异常的有价值的工具。与CPEO和CM相比，平均抖动值高于53.6µs或存在超过30％的异常个体抖动（>45µs）强烈表明CMS。
