Fiol M, Cammarota A, Rivero A, Pardal A, Nogués M, Correale J
Department of Neurology, Dr. Raúl Carrea Institute for Neurological Research (FLENI), Buenos Aires, Argentina.
Neurologia. 2001 Feb;16(2):89-91.
Stiff-person syndrome (SPS) is a disorder of motor function characterized by rigidity of axial musculature and fluctuating painful spasms, which are often induced by startle or emotional stimuli. Neurophysiological studies have demonstrated the presence of continuous motor unit activity in muscle at rest, with abnormally enhanced extereoceptive reflexes. Although criteria for the diagnosis of SPS were proposed, several variants of this syndrome have been described before. In this communication, we report the case of a patient with a focal form of SPS. A 39-year-old woman developed progressive instability in her gait, spasms and stiffness restricted to both legs. The electromyographic examination showed continuous motor unit activity of the affected muscles at rest. Moreover, high anti-GAD antibodies titers were found in CSF and serum. Clinical symptoms, electrophysiological and immunological profiles suggest a focal form of SPS. Clinical and immunological findings indicate that SPS is a heterogeneous disease, suggesting the need to redefine its diagnostic criteria. Definition of the range of clinical expression and immunological profiles could be important for the clinical management of these patients.
僵人综合征（SPS）是一种运动功能障碍疾病，其特征为轴性肌肉僵硬以及反复出现的疼痛性痉挛，这些痉挛常由惊吓或情绪刺激诱发。神经生理学研究表明，在静息状态下肌肉存在持续的运动单位活动，且本体感受反射异常增强。尽管已经提出了SPS的诊断标准，但此前已描述过该综合征的几种变体。在本报告中，我们报道了一例局灶型SPS患者。一名39岁女性出现进行性步态不稳，痉挛和僵硬仅局限于双腿。肌电图检查显示受累肌肉在静息状态下有持续的运动单位活动。此外，在脑脊液和血清中发现了高滴度的抗谷氨酸脱羧酶（GAD）抗体。临床症状、电生理和免疫学特征提示为局灶型SPS。临床和免疫学发现表明SPS是一种异质性疾病，这提示有必要重新定义其诊断标准。明确临床表型和免疫学特征的范围对于这些患者的临床管理可能很重要。
