Abstract:

Objective To summarize the clinical features and electrophysiological characteristics of stiff-person syndrome (SPS). Methods and Results Clinical data of 11 SPS patients [8 were classic and 3 were stiff-person plus syndrome (SPPS)], who were diagnosed and treated from August 2009 to November 2018, were retrospectively collected. They mainly presented paroxysmal muscle stiffness and pain spasm under stimulation or emotional excitement. The first affected sites were at trunk (4 cases) or limb (7 cases) muscles, and by the time of diagnosis, were mainly at truck muscles (8 cases). Anti-glutamic acid decarboxylase (GAD) antibody testing was positive in 6 cases. Electromyography (EMG) of all the patients showed continuous motor unit activity (CMUA) in the affected muscles at rest state. After treated by benzodiazepines, motor unit potential (MUP) obviously decreased or even disappeared in 6 patients. Conclusions Stiff-person syndrome is a rare autoimmune disease with multiple initial sites, atypical initial symptoms and difficulty in early diagnosis. It should be distinguished from many diseases such as familiar hyperekplexia, tetanus, myotonia congenita and multiple sclerosis (MS).

Key words: Stiff-person syndrome, Glutamate decarboxylase, Electromyography, Benzodiazepines

摘要：

目的 对僵人综合征的临床及电生理学特点进行总结。方法与结果 选择2009年8月至2018 年11 月诊断与治疗的 11 例僵人综合征（8 例经典型僵人综合征、3 例僵人叠加综合征）病例，主要表现为刺激或情绪激动诱发的阵发性肌肉僵硬和痛性痉挛，4 例以躯体中轴部位肌肉首发，逐渐进展，至就诊时 8 例病变主要累及躯体中轴部位肌肉；6 例血清抗谷氨酸脱羧酶抗体阳性；11 例肌电图均可见静息态持续性运动单位电位，6例经苯二氮卓类药物治疗后运动单位电位明显减少甚至消失。结论 僵人综合征是一种临床较罕见的自身免疫性疾病，首发部位多样、症状不典型，早期诊断困难，应注意与家族性过度惊吓症、破伤风、先天性肌强直和多发性硬化等相鉴别。

关键词: 僵人综合征, 谷氨酸脱羧酶, 肌电描记术, 苯二氮卓类