Sunohara N, Tomi H, Nakamura A, Arahata K, Nonaka I
Department of Neurology, National Center of Neurology and Psychiatry, Kodaira.
Intern Med. 1996 Jun;35(6):507-11. doi: 10.2169/internalmedicine.35.507.
A sporadic Japanese case of myotonia congenita with painful muscle cramps is reported. Electromyographic examinations disclosed myotonic discharge with dive bomber sounds at insertion, and high-amplitude, high-frequency motor unit potentials during the muscle cramps. Biopsied muscle specimens and EMG findings showed non-specific mild myopathic changes. There was no abnormal expansion of CTG repeat within the myotonic dystrophy gene. This patient's disorder closely resembles Becker's myotonia congenita Type II though the family history of was non contributory.
报告了一例散发的伴有疼痛性肌肉痉挛的先天性肌强直日本病例。肌电图检查显示插入时伴有俯冲轰炸机样声音的肌强直放电，以及肌肉痉挛期间高振幅、高频运动单位电位。活检的肌肉标本和肌电图结果显示非特异性轻度肌病改变。强直性肌营养不良基因内的CTG重复序列没有异常扩增。尽管家族史无贡献，但该患者的疾病与贝克尔先天性肌强直II型非常相似。
