挛生子重症肌无力

目的：通过研究单卵和双卵挛生子,评估重症肌无力（ＭＧ）的遗传性。方法：回顾分析１９８３～１９９９年间诊治的１１对挛生子ＭＧ的病例资料,比较单卵和双卵挛生子ＭＧ发病的一致率。结果：９例单卵挛生子中双方患病６对,ＭＧ发病一致率为６６．７％（６／９）,２对双卵挛生子均仅其中一方患病,ＭＧ发病一致率为０（０／２）,二者发病一致率有显著差异（Ｐ〈０．０１）。结论：遗传因素在ＭＧ发病中起重要作用。     

重症肌无力与细胞因子

重症肌无力(MG)是一种以体液免疫介导为主、细胞免疫依赖和补体参与的神经肌肉接头的自身免疫性疾病。研究表明,细胞因子间的平衡紊乱与MG的发病有着重要的关系。因此,深入了解不同细胞因子在MG中的作用可以更加明确MG的发病机制以及对治疗提出新的研究方向。     

白细胞介素与重症肌无力

重症肌无力(MG)是选择性侵犯神经肌肉接头处突触后膜上乙酰胆碱受体(AchR)的自身免疫性疾病。乙酰胆碱受体抗体(AchRab)介导的体液免疫和T细胞介导细胞免疫是其主要发病机制,但其免疫紊乱的具体环节尚不清楚。自细胞介素(IL)作为细胞因子的重要组成部分,其活性的改变可反映体内免疫功能紊乱的状况;可直接影响B细胞的数量和功能,进而影响AchRab的产生。本文着重介绍相关IL在MG中的作用及有关机制。     

我国南方1 520例重症肌无力患者的临床特点

目的研究我国南方重症肌无力(MG)的临床特点。方法回顾性分析1987-03—2006-01作者医院确诊的1 520例MG患者的病例资料。结果该组MG患者男∶女=1∶1.18,发病年龄在14岁以下者占47.0%,以眼睑下垂为首发症状者占61.25%,按改良Osserman分型Ⅰ型占67.1%,危象发生率为10.86%,MG伴其他自身免疫性疾病的发生率为8.68%,其中甲亢的发生率为6.84%。家族性MG的发生率为1.91%。结论该组病例的临床特点与国外报道差异较大,提示我国MG临床表现有其独特之处,充分认识其临床特点将有助于临床诊断和治疗。     

Ryanodine受体抗体与重症肌无力

<正> 重症肌无力(myasthenia gravis MG)是一种与神经肌肉接头处突触后膜烟碱型乙酰胆碱受体损害有关的自身免疫性疾病。85％的MG体内可检测到AchR-Ab.在临床上,另有15％的MG患者血清内未检测到AchR-ab,这些患者被称为抗体阴     

干燥综合征伴重症肌无力一例报告

1 病例报告 患者女,48岁。8年前出现持物费力,双下肢发软,但尚能从事一般家务劳动。休息后减轻,劳累后加重。晨轻暮重。突触前膜、突触后膜乙酰胆碱受体抗体(AChRAb)分别为1.6和1.4。口服吡啶斯的明120 mg治疗有效。3年前因感冒后无力症状加重,卧床不起,且出现双侧眼睑下垂,视物不清,易疲劳,伴眼干、口干,哭时泪少,可进干食,牙齿脱落。1周前感冒后全身无力症状轻度加重,伴有眼睑下垂、视物模糊于2000-12-21入院。查体:牙齿     

重症肌无力眼外肌易患性

重症肌无力（myasthenia gravis，MG）是一种乙酰胆碱受体抗体（AChR-Ab）介导并有补体参与的自身免疫性疾病。约90％左右的MG患者首先选择性累及眼外肌，出现眼外肌无力，其中约15％的患者肌无力症状终身仅局限于眼外肌。为何MG患者往往首先选择性受累眼外肌，其机制迄今不明。我们通过研究，对MG患者眼外肌肌无力易患性介绍如下。     

重症肌无力的诊断及治疗进展

重症肌无力 (MG)是神经肌肉接头(NMJ)处乙酰胆碱受体 (AChR)自身致敏和破坏所致的典型的以抗体为媒介的自身免疫性疾病 ,其中 6 5 %～ 85 %的患者体内存在抗AChR抗体 ,诊断较为明确 ,对抗胆碱酯酶药治疗有效。尚有部分患者抗AChR抗体阴性 ,对单一抗胆碱酯酶药治疗不敏感 ,新近研究发现许多附加的诊断方法和治疗手段可作为重症肌无力的辅助诊断与治疗 ,本文对上述两者进行了综述。1　重症肌无力的诊断1.1　抗酪氨酸激酶受体 (MuSK)抗体MuSK是一种酪氨酸激酶受体 ,它主要在肌肉早期发育过程中进行表达 ,其作用决定了神经肌肉连接处的…     

预防接种诱发重症肌无力

重症肌无力是一种神经肌肉接头传递功能障碍,以骨骼肌无力为特征的自身免疫性疾病.预防接种可使某些患者的免疫状态发生变化而诱发MG.本研究对35例因预防接种诱发MG的患者报道如下.1 资料与方法1.1 一般资料性别和年龄：男20例,女15例.1～3岁10例,4～7岁15例,8～12岁6例,成人4例,分别为21岁、23岁、45岁和50岁.     

眼肌型重症肌无力研究进展

重症肌无力（MG）是一种由乙酰胆碱受体（AChR）抗体介导，细胞免疫依赖，补体系统参与，主要累及神经肌肉接头突触后膜AChR的自身免疫性疾病。其中眼肌型重症肌无力（oMG）特指肌无力症状仅局限于眼外肌，而全身型重症肌无力（gMG）则是指除眼外肌外，无力症状还累及骨骼肌系统。oMG的自然病程复杂多变，临床表现时轻时重，且其中很大一部分患者在2年内还有可能逐渐发展成为gMG。     

Increased serum interleukin-17 levels in patients with myasthenia gravis

It has been suggested that interleukin-17 (IL-17) plays a crucial role in the development of several autoimmune diseases. However, there are no data about the relationship between myasthenia gravis and IL-17. The aim of this study was to measure the concentration of IL-17 and determine whether levels depend on the severity of MG. Serum IL-17 concentrations were measured in 25 patients. IL-17 concentrations were higher in generalized MG compared with controls and correlated with anti-acetylcholinesterase receptor antibody titers.     

Left-handedness and myasthenia gravis

In two separate studies comparing the handedness of patients suffering from myasthenia gravis with matched controls, no evidence was found to support the Geschwind Behan hypothesis of an association between autoimmune disease and left-handedness. Counter to prediction both studies found marginally lower incidences of left-handedness in myasthenics, and when combined with the similar result of Cosi et al. (Cortex 24, 573-577, 1988) the difference was highly statistically significant. The personality of myasthenics, as assessed by the Eysenck Personality Questionnaire (EPQ), and in particular the psychoticism scale, which has been postulated to be related to androgen levels, was not significantly different from controls. However, assessment of sex-roles using the Bem Sex Role Inventory suggested that female myasthenics were more masculine than controls.     

Seronegative myasthenia gravis

Of 221 patients with myasthenia gravis, 18.5% had no detectable antibodies to acetylcholine receptor. Seven of 14 patients (50%) with only ocular symptoms for more than 2 years were seronegative, and 25 of 145 (17%) patients with generalized myasthenia were seronegative. The clinical characteristics of seronegative patients did not differ from patients with high antibody titers. No seronegative patient had a thymoma, but that difference did not reach statistical significance. Lack of serum antibodies did not preclude favorable response to thymectomy or plasmapheresis.     

Juvenile myasthenia gravis

Juvenile myasthenia gravis shares a similar pathophysiologic origin with adult myasthenia gravis, but there are important differences, mostly relating to epidemiology, presentation, and therapeutic decision making. Gender ratios and the proportion of seropositive patients differ in the pre‐ and postpubertal age groups. The diagnostic evaluation is similar to that in adults, although special techniques are sometimes necessary to perform single‐fiber electromyography in younger patients. Therapeutic decisions in affected children and adolescents are complicated by the greater long‐term consequences of using steroids, and thus other interventions, such as intravenous immunoglobulin (IVIg) and plasmapheresis, may play a greater therapeutic role in this population than in adults. Steroid‐sparing agents may contribute to the management of refractory cases, but they should be used with caution due to the risk of malignancy. Muscle Nerve, 2008     

Penicillamine-associated myasthenia gravis

Electroneuromyographic studies have been reported as abnormal in only 9 of 23 cases of penicillamine-associated myasthenia gravis (MG). We report a patient with rheumatoid arthritis who developed clinical and electrodiagnostic evidence of myasthenia 7 months after beginning penicillamine therapy. Six months after discontinuing penicillamine, it was possible to discontinue anticholinesterase medications. With clinical improvement, electrodiagnostic studies (including single-fiber electrmyography) improved, serum antibody titers to human muscle acetylcholine receptor fell, and lymphocytes became more responsive to the nonspecific mitogen phytohemagglutinin. Evidence suggests that penicillamine-associated myasthenia is a distinct syndrome rather than the chance occurrence of two diseases. This syndrome is clinically and electrophysiologically distinguishable from idiopathic myasthenia only by the high remission rate after penicillamine is discontinued.     

Seronegative myasthenia gravis

Six to 20 p.cent of patients with generalized myasthenia gravis and 30 to 50 p.cent of those with ocular myasthenia gravis do not have anti AchR antibodies. Strict clinical, pharmacological and electrophysiological criteria are needed for the diagnosis of sero-negative myasthenia gravis. Sero-negative myasthenia gravis is an autoimmune disorder. But thymic hyperplasia is generally absent. Antibodies directed against the muscle receptor of tyrosine kinase (anti MuSK antibodies) were recently demonstrated in 40 to 70 p.cent of patients with sero-negative myasthenia gravis. Sero-negative and sero-positive myasthenia gravis may be clinically very similar. But sero-negative myasthenia gravis may express predominantly severe oculobulbar weakness or mainly neck, shoulder and respiratory muscle weakness. Sero-negative myasthenia gravis is never associated with thymoma. Sero-negative myasthenia gravis responds to immunodulation but perhaps less well than sero-positive myasthenia gravis.