AbstractStiff-person syndrome (SPS) is a rare disease of severe progressive muscle stiffness in the spine and lower extremities with superimposed muscle spasms triggered by external stimuli. Patients with SPS are often referred for psychiatric evaluation and the psychiatrist may be the first to diagnosis SPS. Psychosocial stressors often precede the first manifestations of the disease; depression, anxiety, and alcohol abuse are comorbid illnesses. The identification of an association with antibodies to glutamic acid decarboxylase (GAD) was invaluable for definitively establishing a pathological basis for the disease; antibodies to amphiphysin and gephyrin are also found in cases of SPS but at much lower frequencies. Whether the antibodies inhibit GAD activity in vivo, target GAD-expressing neurons for immune-mediated destruction, are part of a wider immune process, or are merely a marker for destruction of GAD-expressing neurons by an independent neurodegenerative process is not yet clear. Both electromyography and the detection of GAD antibodies are useful in establishing a diagnosis of SPS. Treatment of SPS includes the use of immunomodulating therapies (plasmapheresis and intravenous immunoglobulins) and symptomatic treatment with benzodiazepines and baclofen. The use of tricyclic antidepressants and rapid withdrawal from therapy should be avoided.
摘要僵人综合征(SPS)是一种罕见的疾病,患者脊柱和下肢会出现严重的进行性肌肉僵硬,并伴有由外部刺激引发的肌肉痉挛。SPS 患者通常会被转介到精神科进行评估,精神科医生可能是诊断 SPS 的第一人。心理社会压力往往先于疾病的最初表现;抑郁、焦虑和酗酒是合并症。与谷氨酸脱羧酶(GAD)抗体相关性的鉴定对于明确确定该病的病理基础非常有价值;在SPS病例中也可发现氨肽素和胰蛋白酶抗体,但频率要低得多。这些抗体是在体内抑制 GAD 的活性,还是针对 GAD 表达的神经元进行免疫介导的破坏,是更广泛的免疫过程的一部分,或者仅仅是独立的神经退行性过程破坏 GAD 表达的神经元的标志物,目前还不清楚。肌电图和 GAD 抗体的检测都有助于确诊 SPS。SPS 的治疗包括使用免疫调节疗法(浆细胞吸出术和静脉注射免疫球蛋白)以及苯二氮卓类药物和巴氯芬对症治疗。应避免使用三环类抗抑郁药和快速停药。