肌萎缩侧索硬化症临床与电生理

目的:探讨肌萎缩侧索硬化症的临床与肌电图特点;方法:对30例肌萎缩侧索硬化症的临床及肌电图进行分析总结;结果:肌萎缩侧索硬化症表现为上下运动神经元同时受累,肌无力、肌萎缩、肌束颤动,伴腱反射亢进、病理征等,无感觉障碍,肌电图特点为广泛分布(多个肢体)的神经源性损害。结论:根据临床及肌电图并除外其它疾病时本病可确诊,肌电图的广泛神经源性损害有助于该病的早期诊断。     

平山病的神经电生理学研究

目的 探讨平山病的神经电生理学特点及其与肌萎缩侧索硬化、多灶性运动神经病的鉴别诊断.方法 分别对平山病(26例)、肌萎缩侧索硬化(30例)和多灶性运动神经病(16例)患者进行运动和感觉传导速度、肌电图及交感皮肤反应等神经电生理学检查.运动传导速度采用由远端至近端分段刺激,记录复合肌肉动作电位的波幅、时限、面积及波形的变化,并判断是否存在神经传导阻滞;肌电图检查记录脑区肌肉(双侧胸锁乳突肌),颈区肌肉(拇短展肌、小指展肌、第一骨问肌、肱二头肌),胸区肌肉(T10椎旁肌、腹直肌)和腰骶区肌肉(胫骨前肌)的肌电活动.比较3组患者神经电生理学特点的差异性.结果 平山病组患者均无神经传导阻滞,肌电图检查显示颈区肌肉呈神经源性损害;肌萎缩侧索硬化组患者亦无神经传导阻滞,肌电图检查显示脑区、颈区、胸区和腰骶区肌肉均呈神经源性损害;多灶性运动神经病组患者均存在神经传导阻滞,肌电图检查颈区和腰骶区肌肉呈神经源性损害.平山病组患者神经传导阻滞的发生率与多灶性运动神经病组比较,差异有统计学意义(x2=42.000,P=0.000);平山病组患者神经源性损害的发生率与肌萎缩侧索硬化组比较,差异亦有统计学意义(x2=56.000,P=0.000).结论 平山病组患者运动和感觉传导速度均无异常,无神经传导阻滞,但肌电图检查显示颈区肌肉呈神经源性损害.     

4例原发性甲旁亢伴肌萎缩临床分析

目的:探讨原发性甲旁亢伴肌萎缩临床特点,提高临床医师对本病认识,降低误诊率和漏诊率。方法:回顾性分析1990年至今在我科诊治的以肌萎缩和肌无力为首发症状的甲旁亢病例共4例,就其临床表现、实验室检查、电生理特点、组织学变化以及治疗预后结合文献进行分析。结果:4例均以双下肢无力起病,逐渐进展为四肢对称性以近端为主的肌无力和肌肉萎缩,下肢重于上肢,其中2例同时有上运动神经元损害表现。4例肌酶均正常,血钙浓度和血清甲状旁腺激素测定都明显升高。肌电图和肌活检结果可表现为肌源性或神经源性。3例患者采用手术治疗,切除甲状旁腺腺瘤后肌无力症状有所改善。结论:原发性甲旁亢对神经肌肉系统的影响错综复杂,肌电图和肌肉活检结果缺乏特异性,血钙浓度测定对疾病诊断有较大帮助．手术是治疗的重要手段。本病存在类似肌萎缩侧索硬化症状的少见类型。     

强直性肌营养不良一家系临床分析

目的 探讨强直性肌营养不良(DM) 的临床特点,以提高对该病的认识.方法 对一DM 家系确诊的5例患者的临床资料进行收集分析,包括患者基本资料、临床表现、肌电图及肌肉活检等.结果 5例DM 患者均为慢性病程,以肌强直、肌无力、肌萎缩为主要表现,伴眼部、心脏、内分泌和神经等多系统损害,血清肌酶轻度增高或正常,肌电图具有特征性肌强直放电和肌源性损害,肌肉活检具有相对特异性肌病特征.结论 DM 是一种以肌强直、肌无力、肌萎缩为主要表现的多系统损害的遗传性疾病,临床表现复杂多样,肌肉活检有助于明确诊断.     

同心圆硬化伴肌萎缩一例报告

1 病例报告 患者男,34岁。因“表情淡漠伴右侧肢体无力1个月”于2001-10-24入院。此前1个月出现懒言少语,反应迟钝,口角左歪,右侧肢体无力,半月前出现双手肌肉萎缩。查体:神经系统检查:右侧中枢性面瘫,双手大小鱼际肌与骨间肌萎缩,无肌挛与颤动,右侧上下肢肌力Ⅲ级,左侧肌力Ⅴ级;肌张力降低,感觉正常,双侧腱反射活跃,双侧Oppenheim征阳性。血清免疫学与脑脊液检查正常。脑电图呈局限性慢波。肌电图(EMG)检测双侧大小鱼际肌及骨间     

青年上肢远端肌萎缩症的临床肌电图及肌肉病理的研究

对２２例青年上肢远端肌萎缩症的临床，肌电图及肌肉病理进行了研究。肌电图显示神经源性损害，主要分布于病侧手肌，对侧手肌也可有亚临床电生理异常，提示受损节段多在颈７、８－胸１脊髓前角，肌肉组织病理，酶组织化学及电镜检查显示神经源性肌萎缩，为下颈髓前角细胞受损的结果有别于运动神经元病，其病因可能与局部脊髓血循环境障碍有关。     

139例肌萎缩侧索硬化临床及肌电图表现特点

目的 探讨肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)的临床及电生理特征,为早期准确诊断ALS提供依据.方法 回顾性研究近5年来收治的门诊及住院139例肌萎缩侧索硬化患者的临床及电生理表现,对其发病特点、症状、体征及实验室检查进行统计分析.结果 ALS在临床上慢性隐袭起病,逐渐进展,50岁前后发病,平均年龄49.1岁,平均病程2.4年.男性明显多于女性.首发症状为单侧上肢肌肉无力和肌肉萎缩最常见,其次为肌束震颤、延髓麻痹、锥体束征等,少数患者可出现肢体麻木、疼痛或发凉等感觉异常.临床主要症状是肢体无力、肢体和舌肌肌肉萎缩、锥体束征、肢体和舌肌肌束震颤.所有ALS侵害的部位均表现神经源性损害,胸锁乳突肌肌电图检查、胸脊旁肌肌电图、头部/颈/腰椎CT及MRI等辅助检查具有重要的确诊及鉴别诊断意义.结论 目前ALS的诊断仍然依靠临床表现.肌电图、CT/MRI是ALS诊断和鉴别诊断的重要辅助手段.     

肌萎缩侧索硬化与脊髓型颈椎病的神经电生理检查

目的 探讨神经电生理检查在肌萎缩侧索硬化（amyotrophic laleral sclerosis，ALS）及脊髓型颈椎病（cervical spondylotic myelopathty，CSM）鉴别中的价值。方法 对28例初步诊断为ALS组、34例CSM组及两者鉴别困难者5例，这三组病人进行肌电图检查。结果 ALS组胸锁乳突肌及上、下肢肌肌电图都表现为神经源性损害；而CSM组仅表现为上肢脊神经根所支配的相应区域的神经源性损害，胸锁乳突肌及下肢肌无一例异常；而两者鉴别困难者组通过肌电图检查发现有4例存在颈、腰椎神经根病变，有1例为颈椎病合并ALS。本文同时对下胸段脊旁肌（T9．T10、T11）进行检查发现AIS组中阳性率为75％，而颈椎病组无一例异常。结论 神经电生理检查能帮助ALS及CSM的诊断及鉴别诊断。     

婴儿型脊髓性肌萎缩症的临床及电生理特点

目的 探讨婴儿型脊髓性肌萎缩症(SMA)的临床和电生理特点.方法 回顾性分析20例婴儿型SMA患儿的临床资料.结果 20例SMA患儿临床表现为出生后进行性加重的四肢弛缓性瘫痪,肌张力低下,腱反射消失.肌电图表现为神经源性损害,所检测的50条运动神经均示神经肌肉复合动作电位波幅衰减,其中10条合并末端潜伏期延长及传导速度轻度减慢;所检测的25条感觉神经传导速度在正常范围.肌肉活检为典型的神经源性肌萎缩.结论 婴儿型SMA的临床特点为出生后进行性加重的四肢弛缓性瘫痪,肌电图检查显示为神经源性损害.     

29例腓骨肌萎缩症患者的神经电生理检测特征性分析

目的 探讨腓骨肌萎缩症(Charot-Marie-Tooth disease,CMT)患者的神经电生理改变特点.方法 应用美国Nicolet公司的Viking Ⅳ肌电图/诱发电位仪对29例腓骨肌萎缩症患者进行周围神经传导速度及肌电图检测,对所得结果进行同顾性总结和分析.结果 100%患者被检的运动或感觉神经传导速度存在不同程度的减慢或消失,且感觉神经病变重于运动神经,下肢受累程度重于上肢;70块被检肌肉中,43块(61.4%)呈神经源性损害,5块(7.2%)呈可疑神经源性损害,以远端肌肉病变严重;患者年龄越大,肌肉受累程度越严重,相反,年龄偏小的患者则以神经传导速度减慢为主.结论 不同CMT患者的肌肉受累程度和神经传导速度减慢程度与其年龄大小、病程长短有关,而对于同一患者来说,其下肢受累程度要重于上肢.     

Benign monomelic amyotrophy of lower limb: report of three cases

Three patients with wasting confined to a single lower limb are reported. The characteristic features were: sporadic occurrence, insidious onset with slow progression and in 2 cases arrested course for at least 4 years, wasting out of proportion with disability, absence of sensory, pyramidal tract or bulbar signs. CK, motor and sensory conductions, and lumbar MRI were normal. Muscle CT showed selective loss of muscle tissue and fat replacement in posterior leg muscles. Quantitative electromyography and histologic findings revealed neurogenic features not only in the affected legs, but also in clinically uninvolved limbs. Monomelic amyotrophy of lower limb is a variant of spinal muscular atrophy with a benign course. However, as in the early stages of the disease there are no distinctive clinical or laboratory findings with other motor neuron diseases, the diagnosis of monomelic amyotrophy may be made only retrospectively after a prolonged observation.     

Sympathetic skin response in monomelic amyotrophy

OBJECTIVES: Monomelic amyotrophy (MMA) a variant of motor neuron disease, has the characteristic features of wasting and weakness usually confined to a single upper or lower limb occurring predominantly in young males and a benign outcome. Symptoms of increased sweating, coldness and cyanosis have been observed in a few patients. The objective was to evaluate the involvement of the sympathetic nervous system in MMA by measuring sympathetic skin response. METHODS: Electromyography, motor and sensory nerve conduction studies were done in all the four limbs of 9 patients with atrophy of one upper limb. Stimulation at Erb's point, and above and below elbow was done to look for evidence of conduction block. The sympathetic skin response (SSR) was recorded in all the limbs of these patients. Wasting and weakness of right upper limb in 7 patients and left upper limb in 2 patients was seen. The mean age was 28.3+/-10.1 years. Twenty-five age matched (24.8+/-4.8 years) healthy subjects served as controls. RESULTS: The mean SSR latency in the affected upper limbs of 9 patients was prolonged compared to the 25 control subjects (1.51+/-0.07 s vs 1.42+/-0.19 s, P=0.03). The mean value of SSR latency in 18 upper limbs of the 9 patients which included atrophied and unatrophied limbs was also prolonged compared to the controls (1.50+/-0.08 s vs 1.42+/-0.19 s, P=0.05). There was no significant difference of the mean latency of SSR between the atrophied upper limbs and the clinically normal upper limbs (1.51+/-0.07 s vs 1.49+/-0.09 s, P=0.51). The mean SSR latency in the lower limbs of the patients (2.09+/-0.09 s) did not significantly differ from the control subjects (1.97+/-0.28 s, P=0.09). Motor and sensory nerve conduction was normal and there was no evidence of conduction block. CONCLUSION: In MMA the sympathetic nervous system is involved in the atrophic upper limb and also in the clinically unaffected upper limb but not in the lower limbs.     

Distal neuralgic amyotrophy

Neuralgic amyotrophy consists of severe pain around the shoulder and arm followed by weakness in one or several muscles of the same area. We describe four patients with distal neuralgic amyotrophy in whom acute, severe, and transient pain around the shoulder or arm was followed by weakness of the forearm and hand muscles only. Minor sensory symptoms were present in only one patient. The presence of structural lesions causing the extent of the forearm and hand motor deficit was excluded by ancillary examinations. Electrophysiological studies showed a motor axonopathy and minimal sensory axonopathy. A follow-up of 2 years or longer showed either spontaneous improvement or residual motor deficit. Unfamiliarity with a clinically distal localization of neuralgic amyotrophy may result in misdiagnosis of lower cervical (poly)radiculopathy in view of the distal localization of the motor deficit and the high prevalence of coincidental abnormalities of the lower cervical spine on plain radiography, computed tomography, or magnetic resonance imaging. Received: 10 July 1998 Received in revised form: 22 October 1998 Accepted: 29 October 1998     

Long-term follow-up of 44 patients with brachial monomelic amyotrophy

OBJECTIVES: Monomelic amyotrophy of a single upper limb termed "brachial monomelic amyotrophy" (BMMA) is a benign lower motor neuron disorder in the young, with male preponderance, insidious onset of atrophy and weakness, electromyographic evidence of neurogenic pattern without conduction block, slow progression for 2-4 years followed by a stationary course. The aim of the study was to determine whether (i) atrophy and weakness in the affected limb progresses beyond 5 years; (ii) the illness spreads to the other limbs; and (iii) the disease progresses to amyotrophic lateral sclerosis. MATERIAL AND METHODS: Forty-four patients who had a duration of illness of 5 years or more at the last follow-up examination were included in the study. Assessment of symptom profile, neurologic deficit and disability was performed at variable intervals during the follow-up period. RESULTS: Progression of the disease was seen in 37 (84.1%) patients, up to 5 years in 35 (79.5%), 6 years in one and 8 years in another patient. In seven patients (15.9%) the atrophy was accidentally noticed and no further change in the neurologic deficit was observed thereafter. Subsequent to attaining a stationary course, none of the 44 subjects developed fresh symptoms or signs during a mean follow-up period of 9.7 years (range 2.5-23). The mean duration of illness at last follow-up was 12.8 years (range 5-26.5) and in 22 (50%) subjects the disease duration was more than 10 years. Seven patients (15.9%) at presentation had minimal involvement of contralateral upper limb with gross asymmetry and later one more patient developed similar features. Thus, in only a small proportion (18.2%) of patients the neurologic deficit had extended beyond the confines of one upper limb. None of the patients developed involvement of cranial nerves, lower limbs or pyramidal signs. CONCLUSIONS: Progression of the neurologic deficit in the affected limb was seen up to 5 years in the majority followed by a stationary phase with no evidence of fresh neurologic deficit during the follow-up period. Spread to the contralateral upper limb with minimal neurologic deficit was seen in less than a fifth of the patients, but involvement of lower limbs was not observed. BMMA did not evolve to amyotrophic lateral sclerosis. These observations underscore the benign and self limiting course of BMMA.     

Familial monomelic amyotrophy: a case report from India

Monomelic amyotrophy (MMA) is a benign lower motor neuron disorder in the young with male preponderance. It is characterized by insidious onset and progressive weakness and wasting of a distal extremity over a few years followed by spontaneous arrest. The exact pathogenesis is unknown. It is predominantly a sporadic disorder but rarely familial forms have been documented. In this report, we describe the phenotype of a 21-year-old man and his mother who were diagnosed to have MMA. The index case presented with left upper limb weakness and wasting of 3 years duration while his mother had right upper limb amyotrophy and weakness of 34 years. A total of 190 patients were diagnosed to have MMA in our institute over the last 27 years and this is the first case of familial MMA.     

良性单侧下肢萎缩的临床特点

目的探讨良性单侧下肢萎缩(BMALL)的临床特点。方法回顾分析3例BMALL患者的临床资料。结果 3例患者均为男性,慢性起病,以单侧下肢肌萎缩为主症,肌无力程度轻;血清肌酶水平均正常;肌电图示2例为神经源性损害,1例未见异常;腰椎影像学示3例L3～4、L4～5椎间盘轻度突出。肌肉病理学检查示3例患者均出现肌纤维大小不等和小角化纤维,极小纤维和核内移纤维各2例,同型纤维明显群组化1例。结论 BMALL临床特征为单侧下肢萎缩,神经电生理及肌肉病理学均表现为神经源性损害。     

Epineurial microvasculitis in proximal diabetic neuropathy

Amongst the focal and multifocal neuropathies that are associated with diabetes mellitus one of the most common is a proximal predominantly motor lower limb neuropathy. Recent evidence has indicated that, at least in a proportion of cases, this may have an inflammatory basis. We have examined a consecutive series of 15 cases of proximal diabetic neuropathy (diabetic amyotrophy). These were characterized by proximal pain and asymmetric proximal or generalized lower limb muscle weakness, associated in some cases with radicular sensory involvement. Two-thirds of the patients had an accompanying distal symmetric sensory polyneuropathy. Biopsy of the intermediate cutaneous nerve of the thigh, a sensory branch of the femoral nerve, showed epineurial microvasculitis in 3 patients and nonvasculitic epineurial inflammatory infiltrates in another case. In a further case, microvasculitis was found in both in the sural nerve and a quadriceps muscle biopsy specimen. The detection of inflammatory changes appeared to be correlated with the occurrence of sensory radicular involvement. Whether similar changes are present in muscle nerves in this predominantly motor syndrome requires further study. Nevertheless, the present observations confirm the view that secondary vasculitic or other inflammatory reactions may contribute to some forms of diabetic neuropathy.

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Received: 16 June 1997 Received in revised form: 29 October 1997 Accepted: 6 November 1997     

Monomelic segmental amyotrophy: a Spanish case involving the leg

A 65-year old male presented with selective amyotrophy of the right lower limb which, after a progressive course of some months, had stabilized 12 years previously. Physical examination showed amyotrophy involving the gastrocnemius and the quadriceps extensor femoris without sensory impairment. EMG suggested motor neuron disease. This case meets Hirayama and Serratrice's criteria for benign chronic monomelic amyotrophy. We support the hypothesis of a casual vascular factor, as proposed by Hirayama.     

Benign calf amyotrophy: clinicopathologic study of 8 patients

BACKGROUND: The benign focal amyotrophy disorders have been described since 1959 for the upper limbs and since 1981 for the lower limbs. The clinicopathologic features have pointed to a restricted and self-limiting form of motor neuron disease. OBJECTIVE: To describe the clinical, electromyographic, and muscle histopathologic features in 8 patients with benign calf amyotrophy. DESIGN: Retrospective review of patient charts, electromyograms, and muscle histopathology. PATIENTS AND RESULTS: Eight patients, aged 37 to 88 years, developed insidiously progressive calf muscle weakness and wasting during 1 to 5 years. The gastrocnemius weakness and wasting were bilateral in 4 patients. Initial progression of symptoms was followed by disease stabilization. None had a history of poliomyelitis or family history of neuromuscular disease. Creatine kinase values were mildly elevated in 5 patients. The electromyographic and muscle histopathologic findings were consistent with a chronic neuropathic disorder. Despite the restricted calf muscle involvement clinically, the electromyographic abnormalities suggested more diffuse lower limb involvement. Further studies, including DNA tests and muscle-based protein studies, excluded several types of inherited neuromuscular disorders. CONCLUSIONS: Benign calf amyotrophy is a variant of the benign focal amyotrophy disorders. The etiology for these disorders is unknown. Studies to exclude other causes of calf amyotrophy and careful follow-up examinations to document disease stabilization are necessary to diagnose this uncommon disorder.     

MRI findings of benign monomelic amyotrophy of lower limb.

We report here magnetic resonance imaging (MRI) findings of two patients with benign monomelic amyotrophy of lower limb. Both subjects showed unilateral amyotrophy of the lower limb with a benign clinical course, and the affected muscles demonstrated neurogenic changes. On T1- and T2-weighted MRI, marked atrophy and increased signal intensity were found mainly in gastrocnemius and soleus muscles. Moreover, MRI examination also revealed that thigh muscles including semitendinosus, semimembranosus, and vastus intermedius and lateralis muscles were involved in one of the patients. We concluded that muscle MRI is very useful for detecting affected muscles, especially deep skeletal muscles in patients with benign monomelic amyotrophy of lower limb.