Spaans F, Theunissen P, Reekers A D, Smit L, Veldman H
Department of Clinical Neurophysiology, University of Limburg, Maastricht, The Netherlands.
Muscle Nerve. 1990 Jun;13(6):516-27. doi: 10.1002/mus.880130608.
In a new, typical case of Schwartz-Jampel syndrome (SJS) the origin of the disorder was found to be purely myogenic. Concentric needle EMG showed abundant and persistent spontaneous activity, maximal at insertion, and uninfluenced by local curarization. Single-fiber EMG showed rather stable, sometimes intermittent, discharge series with occasional amplitude and/or frequency fluctuations. It could be demonstrated that this activity did not consist of complex repetitive discharges, but of independent activity of individual muscle fibers. This contrasts with findings by other investigators that have been published in this journal. Light microscopic studies of quadriceps and intercostal muscles showed no abnormalities, whereas electron-microscopic findings were in accordance with earlier studies in SJS. Endplate analysis revealed no specific changes; the postsynaptic structures gave the impression of an accelerated-maturation.
在一例新的典型施瓦茨 - 詹佩尔综合征（SJS）病例中，发现该病症的起源完全是肌源性的。同心针电极肌电图显示有丰富且持续的自发电活动，在插入时最大，且不受局部箭毒化影响。单纤维肌电图显示放电序列相当稳定，有时是间歇性的，偶尔有幅度和/或频率波动。可以证明这种活动不是由复杂重复放电组成，而是由单个肌纤维的独立活动组成。这与在本期刊上发表的其他研究者的发现形成对比。股四头肌和肋间肌的光镜研究未发现异常，而电镜结果与SJS的早期研究一致。终板分析未发现特异性变化；突触后结构给人一种成熟加速的印象。
