肌萎缩侧索硬化症及其电生理表现

肌萎缩侧索硬化(amyotrthic lateral sclerosis，ALS)是运动神经元的退行性疾病。临床可表现为进行性延髓性球麻痹，假性延髓性球麻痹，四肢肌萎缩和双侧锥体束征。此4方面可有不同组合，因此表现复杂多样。进行性加重迅速，多在3～5年死亡。治疗是困难的，但近年已有可在早期、轻型患者中延缓病情进展的药物。因此，早期诊断至关重要。电生理是可以帮助早期确诊及发现临床下病例的。电生理测定包括，感觉运动传导速度及诱发电位波幅，肌电图观察四肢及棘旁肌的纤颤电位，瞬目反射，F波、H反射、躯体感觉诱发电位以及单纤维肌电图等。     

维吾尔族肌萎缩侧索硬化症22例神经肌肉电生理检查分析

肌萎缩侧索硬化症(amyotrophic lateraLI sclerosis,ALS)是运动神经元病的一种,是病因未明的主要景及脑干和脊髓的运动细胞和锥体束的运动系统疾病,表现为上、下运动神经元同时受损的症状和体征[1].该病目前尚无有效治疗手段,所以得到明确的诊断至关重要[2].现分析2008-09-2011-11收治的22例维吾尔族ALS患者的神经电生理检查结果,报告如下.     

肌萎缩侧索硬化症的研究进展

肌萎缩侧索硬化症（amyotrophie lateral sclerosis,ALS）是运动神经元病的一个主要类型,选择性侵犯脊髓前角细胞、脑干运动神经元、皮质锥体细胞及锥体束的慢性进行性变性疾病。本文就近年来关于ALS的病因、认知、影像、电生理、诊断及鉴别诊断、治疗等方面的研究进展作一综述。     

肌萎缩侧索硬化症的研究进展

肌萎缩侧索硬化症(amyotrophic lateral sclerosis, ALS)是运动神经元病的一个主要类型,选择性侵犯脊髓前角细胞、脑干运动神经元、皮质锥体细胞及锥体束的慢性进行性变性疾病.本文就近年来关于ALS的病因、认知、影像、电生理、诊断及鉴别诊断、治疗等方面的研究进展作一综述.     

肌萎缩性侧索硬化症误诊6例分析

我院骨科 1998- 0 1～ 2 0 0 2 - 12共收治肌萎缩性侧索硬化症(amyotrophic lateral sclerosis,AL S)误诊为颈椎病 6例 ,误诊率为 2 .1% ,分析如下。1　临床资料本组男 4例 ,女 2例 ,年龄 4 5～ 6 8岁 ,病程 2～ 5 a。主要症状为 :上肢麻木、无力感 ,上肢肌肉不同程度萎缩 ,双下肢无力。随着病情的进展 ,症状逐渐增多 ,出现肌束震颤 3例 ,构音障碍3例 ,吞咽障碍 2例。本组误诊为脊髓型颈椎病 5例 ,神经根型颈椎病 1例。 1例按脊髓型颈椎病行手术治疗 ,疗效较差。再根据颈椎 X线、MRI、肌电图等辅助检查 ,6例均重新诊断为肌萎缩性侧索硬化…     

肌萎缩侧索硬化症

目的：探讨肌萎缩侧索硬化症（ALS）的临床诊断依据及发病机理。方法：根据ALS的诊断标准对95例ALS进行重新诊断，结合文献及本组病例对ALS的病因及发病机理进行讨论。结果：本组肯定为ALS59例（62．11％），拟诊ASL32例（33．68％），可能为ASL4例（4．21％）。结论：临床症状、体征以及肌电图是ASL的临床诊断及鉴别诊断依据，其病因及发病机理未完全明了。     

神经电图与肌电图评估肌萎缩侧索硬化症与脊髓型颈椎病患者的神经电生理差异

背景：肌萎缩侧索硬化症早期症状往往局限于某部位，与脊髓型颈椎病临床表现极其相似，但两者的治疗方法和预后截然不同。此时肌电图和神经电图的多部位检查具有重要参考价值，特别是胸段棘旁肌肌电图可作为区别肌萎缩侧索硬化症与脊髓型颈椎病的客观指标。目的：探讨肌萎缩侧索硬化症与脊髓型颈椎病的电生理改变差异。设计：回顾性病例分析。单位：江西医学院第二附属医院的神经内科。对象：选择2001—12／2004—11江西医学院第二附属医院神经内科门诊和住院的肌萎缩侧索硬化症30例患者和脊髓型颈椎病30例患者。方法：对肌萎缩侧索硬化症患者30例和脊髓型颈椎病30例进行常规肌电图、神经电图检测。肌电图检测包括三肢体肌＋胸锁乳突肌＋胸段棘旁肌，观察静息状态时自发电位，测定运动单位电位的时限、波幅，大力收缩时的募集相。神经电图测定运动传导速度和感觉传导速度及动作电位的末端潜伏期、波幅。主要观察指标：①肌萎缩侧索硬化症与脊髓型颈椎病患者肢体肌、胸锁乳突肌与棘旁肌的肌电图检测结果。②肌萎缩侧索硬化症与脊髓型颈椎病患者神经传导速度检测结果。结果：60例患者全部进入结果分析。①肌电图检测结果：肌萎缩侧索硬化症与脊髓型颈椎病患者的肌电图均呈神经源性损害改变，而肌萎缩侧索硬化症的损害更为广泛，尤其胸段棘旁肌自发电位的异常率高达93．3％（28/30）；脊髓型颈椎病患者的胸段棘旁肌自发电位异常率仅占3．3％（1／30）（P〈0．001）。肌萎缩侧索硬化症患者运动单位电位平均时限、波幅增高异常与脊髓型颈椎病比较有明显的差异，但在两病的鉴别诊断中并不具有特征性。②运动神经传导速度：肌萎缩侧索硬化症患者运动神经传导速度的复合肌肉动作电位的波幅下降率明显低于脊髓型颈椎病患者（75．6％，86．7％；X^2=7．25，P〈0．01）。运动传导速度减慢率也低于脊髓型颈椎病患者（14.4％，23．9％，X^2=5．18,P〈0．05）。⑧感觉神经传导速度：肌萎缩侧索硬化症与脊髓型颈椎病患者的感觉神经传导速度未受到影响。结论：①两组患者的肌电图均呈神经源性损害改变，而肌萎缩侧索硬化症患者胸段棘旁肌自发电位异常率明显高于脊髓型颈椎病。②神经电图显示两者感觉神经传导速度均未受到影响。⑨神经电图还显示肌萎缩侧索硬化症患者运动神经传导速度减慢和波幅下降的运动神经数均少于脊髓型颈椎病患者。     

肌萎缩侧索硬化症的诊断

肌萎缩侧索硬化症(amyotrophic lateral sclerosis,ALS)是一种主要累及大脑皮层、脑干和脊髓运动神经元的神经系统变性疾病。当代ALS的概念代表一组运动神经元进行性变性的疾病,涵盖了经典型的ALS(也称Charcot′s ALS)、进行性延髓麻痹、进行性肌萎缩、原发性侧索硬化等4种常见类型,也包括连枷臂综合征、连枷腿综合征和ALS-痴呆等特殊类型。Brain等[1]则用运动神经元病来统称此类疾病,两者的概念实际是等同的。ALS的年发病率约为     

脊髓型颈椎病与肌萎缩性侧索硬化的电生理研究

脊髓型颈椎病(cervical spondylotic myelopathy，CSM)与肌萎缩性侧索硬化(amyotrophic lateral sclerosis，ALS)有许多相似的临床症状和体征，给临床诊断带来了一定困难，尤其是早期诊断。本文对近年临床确诊为上述两种疾病的124例患者，从电生理学检查角度进行了对比研究。     

神经电图与肌电图评估肌萎缩侧索硬化症与脊髓型颈椎病患者的神经电生理差异

背景:肌萎缩侧索硬化症早期症状往往局限于某部位,与脊髓型颈椎病临床表现极其相似,但两者的治疗方法和预后截然不同.此时肌电图和神经电图的多部位检查具有重要参考价值,特别是胸段棘旁肌肌电图可作为区别肌萎缩侧索硬化症与脊髓型颈椎病的客观指标.目的:探讨肌萎缩侧索硬化症与脊髓型颈椎病的电生理改变差异.设计:回顾性病例分析.单位:江西医学院第二附属医院的神经内科.对象:选择2001-12/2004-11江西医学院第二附属医院神经内科门诊和住院的肌萎缩侧索硬化症30例患者和脊髓型颈椎病30例患者.方法:对肌萎缩侧索硬化症患者30例和脊髓型颈椎病30例进行常规肌电图、神经电图检测.肌电图检测包括三肢体肌+胸锁乳突肌+胸段棘旁肌,观察静息状态时自发电位,测定运动单位电位的时限、波幅,大力收缩时的募集相.神经电图测定运动传导速度和感觉传导速度及动作电位的末端潜伏期、波幅.主要观察指标:①肌萎缩侧索硬化症与脊髓型颈椎病患者肢体肌、胸锁乳突肌与棘旁肌的肌电图检测结果.②肌萎缩侧索硬化症与脊髓型颈椎病患者神经传导速度检测结果.结果:60例患者全部进入结果分析.①肌电图检测结果:肌萎缩侧索硬化症与脊髓型颈椎病患者的肌电图均呈神经源性损害改变,而肌萎缩侧索硬化症的损害更为广泛,尤其胸段棘旁肌自发电位的异常率高达93.3%(28/30);脊髓型颈椎病患者的胸段棘旁肌自发电位异常率仅占3.3%(1/30)(P＜0.001).肌萎缩侧索硬化症患者运动单位电位平均时限、波幅增高异常与脊髓型颈椎病比较有明显的差异,但在两病的鉴别诊断中并不具有特征性.②运动神经传导速度:肌萎缩侧索硬化症患者运动神经传导速度的复合肌肉动作电位的波幅下降率明显低于脊髓型颈椎病患者(75.6%,86.7%,x2=7.25,P＜0.01).运动传导速度减慢率也低于脊髓型颈椎病患者(14.4%,23.9%,x2=5.18,P＜0.05).③感觉神经传导速度:肌萎缩侧索硬化症与脊髓型颈椎病患者的感觉神经传导速度未受到影响.结论:①两组患者的肌电图均呈神经源性损害改变,而肌萎缩侧索硬化症患者胸段棘旁肌自发电位异常率明显高于脊髓型颈椎病.②神经电图显示两者感觉神经传导速度均未受到影响.③神经电图还显示肌萎缩侧索硬化症患者运动神经传导速度减慢和波幅下降的运动神经数均少于脊髓型颈椎病患者.     

Excitotoxins and amyotrophic lateral sclerosis

Recent data suggest that amiotrophic lateral sclerosis (ALS) could be the result of motoneuron damage induced by endogenous or exogenous excitotoxins, and especially by excitatory amino acids (EAA). Three main sources support this hypothesis: 1) The induction of experimental models of motor neuron disease by 2 excitotoxins (BOAA and BMAA). 2) Evidence of disordered glutamate metabolism in ALS. 3) Data suggesting that EAAs may be a factor in the pathogenesis of other degenerative neurologic diseases (Huntington disease and Alzheimer disease). This new "excitotoxin hypothesis" of ALS is of particular interest as several effective antiglutamate agents are now available for human therapeutic trials.     

Genetics of amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) was first described by Charcot in 1869 as what we would now call a sporadic disease-a disease believed to occur without a strong genetic influence. Only within the past 10 years has it been possible to fully explore genetic influence on disorders that seem to occur sporadically but likely result from the convergence of multiple genetic and environmental factors. This article reviews the genetics of familial ALS and summarizes current investigations of genetic influence in sporadic ALS. Genetic study clearly offers the potential for identification of molecular targets that would allow development of rational therapies for various forms of ALS, but much work remains.     

Biomarkers for amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. ALS is a fatal neurodegenerative disease and clinical diagnosis typically takes many months to complete. Early disease diagnosis through the use of biomarkers may aid in correct clinical management of patients and possibly delay time to ventilator and morbidity. This review explores the progress of biomarker discovery efforts for ALS and the many challenges that remain. Included are different technologies utilized in biomarker discovery efforts (proteomic, genomic and metabolomic) and putative biomarkers uncovered using these techniques. These studies have discovered genetic mutations leading to familial forms of ALS, and specific protein alterations that occur in biological fluids (cerebrospinal fluid and blood) and/or tissues of ALS subjects. More recent high-throughput technologies have revealed panels of proteomic or metabolic biomarkers that can discriminate between ALS and control groups. The identification of disease-specific biomarkers will provide opportunities to develop early diagnostic measures as well as surrogate markers to monitor disease progression and test drug efficacy in clinical trials.     

Fatigue in amyotrophic lateral sclerosis

Fatigue is a common and potentially debilitating symptom of amyotrophic lateral sclerosis (ALS). Questionnaire studies show that ALS subjects have increased subjective fatigue. Physiologic studies demonstrate that ALS subjects have increased physical fatigue, both central and peripheral in origin. No treatment has been proved effective through evidence-based medicine; however, modafinil (Provigil) may be a helpful pharmacologic treatment. Palliative care measures, such as noninvasive ventilation and high-frequency chest wall oscillation, may also reduce fatigue.     

Modeling drop-outs in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) clinical trials suffer a large proportion of drop-outs. Ignoring missing data can lead not only to underpowered tests, but also to selection bias. Current strategies for handling not at random missing data have several limitations. To determine the most effective approach, we compared the standard procedures with the pattern mixture model, using the data from a randomized dose-finding trial on lithium for the treatment of ALS, which reported a high rate of drop-outs (68.4%). We evaluated the ALS Functional Rating Scale-Revised (ALSFRS-R) profile using mixed effect models on different reference populations (1. Intention-to-treat, 2. "Completers", 3. Last observation carried forward, 4. "0-imputation"). All four strategies have limitations on account of: 1. Violation of the "missing completely at random" assumption of the mixed model; 2. Underpowered results on selected patients; 3. Underestimation of the time effect on ALSFRS-R decline and misuse of the assumption that those who discontinued could not get worse; 4. Overestimation of the time effect on ALSFRS-R decline and misuse of the assumption that those who discontinued could not have scores different from zero. The pattern mixture models fitted better than models that did not consider the missing data pattern effect (p=0.006 and p=0.0002). Pattern mixture model thus seem superior and we recommend its use to obtain more accurate estimates even when the information is missing.