Barker R A, Revesz T, Thom M, Marsden C D, Brown P
National Hospital for Neurology and Neurosurgery, London, UK.
J Neurol Neurosurg Psychiatry. 1998 Nov;65(5):633-40. doi: 10.1136/jnnp.65.5.633.
To investigate whether the stiff limb syndrome may be separated from the stiff man syndrome and progressive encephalomyelitis with rigidity on simple clinical grounds, and whether such a distinction has implications for aetiology, treatment, and prognosis.
Twenty three patients referred over a 10 year period with rigidity and spasms in association with continuous motor unit activity, but without evidence of neuromyotonia, extrapyramidal or pyramidal dysfunction or focal lesions of the spinal cord were reviewed. The patients were divided into those with an acute or subacute illness, leading to death within 1 year, and those with a chronic course. The latter were divided into those in whom rigidity and spasms dominated in the axial muscles, or in one or more distal limbs, at the time of their first assessment.
This simple division identified three distinct groups of patients. (1) Progressive encephalomyelitis with rigidity: two patients had a rapidly progressive condition characterised by widespread rigidity which resulted in death within 6 and 16 weeks. One patient had negative anti-GAD and anti-neuronal antibodies, but had markedly abnormal CSF and widespread denervation. The principal pathological findings in this case were a subacute encephalomyelitis which primarily affected the grey matter. In the remaining patient anti-GAD antibodies were not tested, and postmortem was refused. (2) Stiff man syndrome: eight patients had rigidity and painful spasms of the lumbar paraspinal, abdominal, and occasionally proximal leg muscles associated with a lumbar hyperlordosis. There was no involvement of the upper limbs, distal lower limbs, sphincters or cranial nerves. Seven had anti-GAD antibodies and most had additional evidence of autoimmune disease. Neurophysiologically there was continuous motor unit activity with abnormal exteroceptive reflexes, but a normal interference pattern during spasms. The patients all responded to baclofen/diazepam and remained ambulant. (3) Stiff limb syndrome: thirteen patients had rigidity, painful spasm, and abnormal postures of the distal limb, ususphincter or brainstem involvement. Generalised myoclonic jerks were not a feature. Only two had truncal rigidity, and another two had anti-GAD antibodies. Most had no evidence of autoimmune disease. Neurophysiologically they had continuous motor unit activity in the affected limb, abnormal exteroceptive reflexes, and abnormally segmented EMG activity during spasms. The disease ran a protracted course, and most patients had only a partial response to baclofen or diazepam. About half became wheelchair bound.
The stiff limb syndrome seems distinct from the stiff man syndrome or progressive encephalomyelitis with rigidity, and is an important cause of rigidity and spasm in the setting of continuous motor unit activity.
探讨仅依据简单的临床依据，僵肢综合征是否可与僵人综合征及僵人合并进行性脑脊髓炎相区分，以及这种区分对病因、治疗和预后是否具有意义。
回顾了10年间转诊的23例患者，这些患者存在僵硬和痉挛并伴有持续运动单位活动，但无神经肌强直、锥体外系或锥体功能障碍或脊髓局灶性病变的证据。患者被分为急性或亚急性疾病组（1年内死亡）和慢性病程组。后者又根据首次评估时轴性肌肉或一个或多个远端肢体中僵硬和痉挛的主导情况进行分组。
这种简单的分类确定了三组不同的患者。（1）僵人合并进行性脑脊髓炎：2例患者病情迅速进展，表现为广泛僵硬，分别在6周和16周内死亡。1例患者抗谷氨酸脱羧酶（GAD）抗体和抗神经元抗体阴性，但脑脊液明显异常且存在广泛失神经。该病例的主要病理发现是主要影响灰质的亚急性脑脊髓炎。其余1例患者未检测抗GAD抗体，且拒绝尸检。（2）僵人综合征：8例患者存在腰背部椎旁肌、腹部肌肉以及偶尔的近端腿部肌肉僵硬和疼痛性痉挛，伴有腰椎前凸。上肢、远端下肢、括约肌或颅神经未受累。7例有抗GAD抗体，大多数还有自身免疫性疾病的其他证据。神经生理学检查显示存在持续运动单位活动，外感受性反射异常，但痉挛期间干扰型正常。患者均对巴氯芬/地西泮有反应，且仍可步行。（3）僵肢综合征：13例患者存在远端肢体僵硬、疼痛性痉挛及异常姿势，无括约肌或脑干受累。无全身性肌阵挛性抽搐。仅2例有躯干僵硬，另2例有抗GAD抗体。大多数无自身免疫性疾病证据。神经生理学检查显示受累肢体存在持续运动单位活动，外感受性反射异常，痉挛期间肌电图活动呈异常分段。疾病呈慢性病程，大多数患者对巴氯芬或地西泮仅有部分反应。约半数患者需依赖轮椅。
僵肢综合征似乎有别于僵人综合征或僵人合并进行性脑脊髓炎，是持续运动单位活动情况下僵硬和痉挛的重要原因。
