Renault F, Fedida A
Laboratoire de neurophysiologie clinique de l'enfant, hôpital Trousseau, Paris, France.
Neurophysiol Clin. 1991 Aug;21(3):201-11. doi: 10.1016/s0987-7053(05)80427-7.
Ten cases of congenital myotonic dystrophy have been reported and EMG findings described. In 5 neonates, EMG was performed between the 4th and 27th d of life. Four very severe cases had a fatal outcome, the 6 others were of mild severity, showed hypotonia, motor delay and mental handicap. In 9 cases, diagnosis was not established before birth. The EMG myogenic criteria were present in 2 muscles or more in each case, and were predominantly present in the proximal muscles. Clinical myotonia was absent in all cases but electrical myotonia was provoked by motor nerve stimulation using a current of long duration. The authors emphasize the interest of this stimulation-detection method which was able to exhibit myotonic discharge in 6 patients including 3 neonates.
已报告10例先天性肌强直性营养不良病例，并描述了肌电图检查结果。5例新生儿在出生后第4天至第27天进行了肌电图检查。4例病情非常严重的患儿死亡，另外6例病情较轻，表现为肌张力减退、运动发育迟缓及智力障碍。9例患儿在出生前未确诊。每例患儿均有2块或更多肌肉出现肌源性肌电图标准，且主要出现在近端肌肉。所有病例均无临床肌强直，但通过长时间电流刺激运动神经诱发了电肌强直。作者强调了这种刺激检测方法的重要性，该方法能够在6例患者（包括3例新生儿）中检测到肌强直放电。
