Review of 23 patients affected by the stiff man syndrome: Clinical subdivision into stiff trunk (man) syndrome, stiff limb syndrome, and progressive encephalomyelitis with rigidity
Review of 23 patients affected by the stiff man syndrome: Clinical subdivision into stiff trunk (man) syndrome, stiff limb syndrome, and progressive encephalomyelitis with rigidity
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DOI：
10.1136/jnnp.65.5.633
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发表时间：
1998-11-01
影响因子：
11
通讯作者：
Brown, P
中科院分区：
文献类型：
--
作者：
Barker, RA;Revesz, T;Brown, P
研究僵硬肢体综合征是否可以从僵硬人综合征和进行性脑脊髓炎中分离出来，以及这种区别是否对病因学、治疗和预后有影响。方法23例患者在10年内出现与连续运动单位活动相关的僵硬和痉挛，但没有神经性肌强直的证据。回顾了锥体外系或锥体功能障碍或脊髓局灶性病变。患者分为急性或亚急性疾病，导致1年内死亡，以及慢性病程。后者被分为那些在其中的刚性和痉挛占主导地位的轴向肌肉，或在一个或多个远端肢体，在他们的第一次assessment.Results-This简单的划分确定了三个不同的患者组。(1)进行性脑脊髓炎伴强直：2例患者病情进展迅速，表现为广泛强直，导致6周和16周内死亡。1例患者抗GAD和抗神经元抗体阴性，但CSF明显异常，广泛去神经支配。本病例的主要病理结果为亚急性脑脊髓炎，主要累及灰质。其余患者未检测抗GAD抗体，拒绝尸检。(2)僵人综合征：8名患者出现与腰椎前凸过度相关的腰椎椎旁、腹部和偶尔近端腿部肌肉强直和疼痛性痉挛。无上肢、下肢远端、括约肌或颅神经受累。7人有抗GAD抗体，大多数人有自身免疫性疾病的额外证据。神经生理学上，有连续的运动单位活动异常外感受性反射，但在痉挛正常的干扰模式。所有患者均对巴氯芬/地西泮有反应，并保持卧床。(3)肢体僵硬综合征：13例患者出现肢体僵硬、疼痛性痉挛和远端肢体（通常是腿部）姿势异常。大约一半的人继续发展括约肌或脑干受累。全身性肌阵挛抽搐不是特征。只有两个有躯干刚性，另外两个有抗GAD抗体。大多数没有自身免疫性疾病的证据。神经生理学上，他们有连续的运动单位活动，在受影响的肢体，异常的外感受性反射，并异常分段肌电活动在痉挛。这种疾病的病程很长，大多数患者对巴氯芬或地西泮只有部分反应。大约一半成为轮椅bounded. Conclusions僵硬的肢体综合征似乎不同的僵硬的人综合征或进行性脑脊髓炎与刚度，是一个重要的原因，在设置连续的运动单位活动的刚度和痉挛。
Objective-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.Methods-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.Results-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, usually the leg. About half went on to develop sphincter 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.Conclusions-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.