Cantiniaux S, Azulay J P, Boucraut J, Pouget J, Attarian S
Service de Neurologie et Maladies Neuromusculaires, CHU de la Timone, Marseille.
Rev Neurol (Paris). 2006 Sep;162(8-9):832-9. doi: 10.1016/s0035-3787(06)75086-x.
Stiff-Man syndrome (SMS) is a rare neurological disease first described fifty years ago. There are several clinical forms, which are frequently misdiagnosed. The aim of this study is to review three of the main clinical forms.
Case reports concerning three women suffering from different forms of SMS are presented, giving the main clinical features, their associations with other diseases, and the biological and electrophysiological findings.
The first patient presented a symmetric axial muscle rigidity, painful spasms and contractions of the trunk and limbs associated with anti-GAD antibodies. The common form of SMS was diagnosed and the patient was improved by intravenous immunoglobulin (IVIg). The second patient suffered from contractions and spasms localized to the lower limbs. In this patient, anti-GAD antibodies were absent. The Stiff-Leg syndrome was diagnosed and the patient was improved by intrathecal baclofen. The third patient presented rigidity of limb and trunk muscles associated with signs of encephalitis. In this patient, only anti-amphiphysin antibodies were present. The progressive encephalomyelitis with rigidity was diagnosed and the patient was improved by IVIg associated with corticosteroid.
Identifying patients with SMS makes it possible to propose appropriate medical management. There are several forms of the disease, and the severity of the evolution differs in each case. Treatment with GABA-ergic inhibitory drugs, IVIg and corticosteroid improve both the symptomatology and the quality of life of these patients.
僵人综合征（SMS）是一种罕见的神经系统疾病，于50年前首次被描述。它有几种临床类型，常被误诊。本研究的目的是回顾三种主要的临床类型。
本文报告了三名患有不同形式SMS的女性病例，给出了主要临床特征、它们与其他疾病的关联以及生物学和电生理检查结果。
第一名患者表现为对称性轴性肌肉僵硬、躯干和四肢疼痛性痉挛及收缩，伴有抗谷氨酸脱羧酶（GAD）抗体。诊断为常见形式的SMS，患者经静脉注射免疫球蛋白（IVIg）后病情改善。第二名患者下肢出现局限性收缩和痉挛。该患者不存在抗GAD抗体。诊断为僵腿综合征，患者经鞘内注射巴氯芬后病情改善。第三名患者出现肢体和躯干肌肉僵硬并伴有脑炎体征。该患者仅存在抗 amphiphysin 抗体。诊断为进行性脑脊髓炎伴僵硬，患者经IVIg联合皮质类固醇治疗后病情改善。
识别SMS患者有助于提出恰当的医疗管理方案。该疾病有多种形式，且每种情况的病情发展严重程度不同。使用GABA能抑制药物、IVIg和皮质类固醇进行治疗可改善这些患者的症状及生活质量。
