Hallett M, Chadwick D, Marsden C D
Brain. 1977 Jun;100(2):299-312. doi: 10.1093/brain/100.2.299.
The clinical and electrophysiological findings in 2 cases of familial essential myoclonus are presented. The myoclonus was inherited apparently as an autosomal dominant trait, onset was in the first decade of life and the course was benign without the development of other significant neurological deficits. The electroencephalogram was unremarkable. The electromyographic appearance of the myoclonus was 50-100 ms complex bursts, usually occurring alternately in agonists and antagonists, similar to a normal ballistic movement. Muscles throughout the body were activated synchronously. In one of the cases myoclonus occurred at rest, but in both cases the myoclonus could be regularly produced by attempting a rapid movement. The myoclonic activity occurred simultaneously with the appropriate muscle activity which initiated the ballistic movement. It was as if the command to generate a ballistic movement overflowed into an excessive number of muscles. From a review of the literature it was concluded that this physiological mechanism was probably responsible for a definite sub-group of essential myoclonus. The relation of this type of myoclonus to other types of myoclonus and other involuntary movement disorders is discussed.
本文报告了2例家族性原发性肌阵挛的临床及电生理表现。肌阵挛显然以常染色体显性性状遗传，发病于生命的第一个十年，病程良性，未出现其他明显的神经功能缺损。脑电图无异常。肌阵挛的肌电图表现为50 - 100毫秒的复合爆发，通常在主动肌和拮抗肌中交替出现，类似于正常的弹道运动。全身肌肉同步激活。其中1例肌阵挛在休息时出现，但2例中肌阵挛均可通过尝试快速运动而规律性诱发。肌阵挛活动与启动弹道运动的相应肌肉活动同时发生。就好像产生弹道运动的指令溢出到了过多的肌肉中。通过对文献的回顾得出结论，这种生理机制可能是特定亚组原发性肌阵挛的病因。本文还讨论了此类肌阵挛与其他类型肌阵挛及其他不自主运动障碍的关系。
