皮肌炎和多发性肌炎175例神经传导检测

目的 研究皮肌炎(dermatomyositis,DM)和多发性肌炎(polymyositis,PM)合并神经传导检测(NCS)异常患者的临床和电生理特点以及病因探讨.方法 收集2005年1月到2008年9月中国医学科学院北京协和医院病房收治的DM或PM确诊病例175例,对其临床和NCS结果进行回顾性分析.结果 175例患者中,NCS异常者66例,其中明确的周围神经病32例(48.5%),不能肯定为周围神经损害者34例(51.5%).合并周围神经损害的DM或PM患者恶性肿瘤(3/32,9.3%)、其他免疫病(6/32,18.8%)的发生率较无周围神经损害的DM或PM患者(4/109,3.7%;7/109,6.4%)有明显增加(X2=13.653,P=0.003).结论 合并周围神经损害的DM或PM患者恶性肿瘤、其他免疫病的发生率明显增加,NCS可以为临床早期诊断提供更多的提示和帮助.     

多发性肌炎/皮肌炎临床和病理研究(附305例分析)

目的:研究多发性肌炎/皮肌炎(PM/DM)的临床、病理特征。方法:回顾性总结305例PM/DM患者的临床资料,根据Bohan标准分为5型,研究其临床表现、血清肌酶学、肌电图、肌肉病理的特点。结果:本病临床上主要有肌无力、肌痛或肌捏痛,CK等血清肌酶增高,肌电图呈肌原性损害。各型肌肉病理均显示免疫炎性改变,以单纯多发性肌炎组织损害程度较重,主要表现为肌纤维散在萎缩、肌肉膜炎;皮肌炎组多为肌束周萎缩、血管炎性病变;肌炎合并恶性肿瘤(CAM)、儿童型肌炎(JPM/DM)、肌炎合并其它结缔组织疾病(CTM)三组血管炎性改变亦较明显。结论:各型肌炎的临床和病理有所不同,发病的免疫病理机制亦有所区别。     

肌炎特异性自身抗体在多发性肌炎/皮肌炎及其他神经肌肉疾病的表达

目的 探讨肌炎特异性自身抗体(MSAs)在多发性肌炎/皮肌炎(PM/DM)及其他神经肌肉疾病的敏感度和特异度.方法 采用免疫斑点分析法测定63例PM/DM(PM/DM组)及60例神经肌肉疾病(非肌炎)患者(对照组)的血清抗Jo-1抗体和抗SRP抗体水平,分析其对PM/DM诊断的敏感度和特异度.结果 PM/DM组抗Jo-1和抗SRP抗体阳性率分别为17%和5%,对照组均为阴性.两种抗体诊断PM/DM特异度均为100%(95%CI:94%～100%),总敏感度为22%(95%CI:13%～34%).结论 抗Jo-1和抗SRP自身抗体对PM和DM特异度高.     

重症肌无力合并抗NXP2抗体阳性皮肌炎一例报道并文献复习

目的 探讨重症肌无力(MG)合并皮肌炎(DM)的临床特征及预后,以提高临床医生对本病的认识。方法 报道中南大学湘雅三医院收治的一例MG合并抗NXP2抗体阳性DM患者的临床资料,并结合文献报道的16例MG合并DM患者进行回顾性分析。结果 54岁女性,主要表现为四肢近端肌无力及颈肌无力1个月、加重半个月,肌酸激酶1797 U/L,抗乙酰胆碱受体(AChR)抗体>20 nmol/L,抗NXP2抗体(+),新斯的明试验阳性,肌电图示四肢呈肌源性损害,重复神经电刺激高低频波幅递减,诊断考虑MG合并DM。17例MG合并DM患者平均年龄45岁,临床症状均有四肢肌无力及皮疹,其他症状包括吞咽困难12例(70.6%),发音或构音障碍、肌痛、呼吸困难各7例(41.2%),颈肌无力6例(35.3%),复视5例(29.4%),面肌无力、上睑下垂各4例(23.5%),肌萎缩、躯干肌无力各1例(5.9%)。经糖皮质激素治疗者15例(88.2%),联合新斯的明治疗10例,联合静脉注射免疫球蛋白7例。除合并恶性肿瘤患者死亡外(2例),其他患者经治疗后肌无力、皮疹等症状均好转。结论 MG合并DM时,临床上常无眼外...     

定量感觉及神经传导检测在糖尿病患者中的应用比较

目的:分析定量感觉检查(QST)及神经传导检测(NCS)在糖尿病患者中的应用价值.方法:用QST对100例2型糖尿病(T2DM)组和50例正常对照组分别进行四肢的冷觉(CS)、温觉(WS)、冷痛觉(CP)、热痛觉(HP)的感觉阈值测定并进行比较分析;并对T2DM患者进行上肢的正中神经、尺神经,下肢的胫神经、腓神经运动和感觉支的NCS、复合肌肉动作电位(CMAP)、感觉神经动作电位(SNAP)以及运动末梢潜伏期(DML)进行测定并分析.T2DM患者分为有症状组和无症状组,分别对QST及NCS的异常率进行分析并比较.结果:T2DM组QST和NCS结果与正常对照组比较差异有显著意义(P＜0.01); QST与NCS异常率比较差异有显著意义(P＜0.01),QST的异常率均显著大于NCS;提示糖尿病周围神经病(DPN)患者中周围神经小纤维受损比大纤维更明显,T2DM患者有症状组和无症状组各值比较差异均有显著意义(P＜0.01).结论:QST对DPN的早期诊断提供可靠依据,QST对DPN的诊断敏感性高,但特异性低,需与NCS结合对糖尿病周围神经状况进行评价更为完善.QST和NCS不能相互替代,全面了解DPN病情需QST和NCS结合,并密切结合临床.     

代谢综合征患者缺血性卒中后认知损害的观察

目的 探讨代谢综合征与缺血性卒中后认知损害之间的关系.方法 连续收集94例首发缺血性卒中患者的临床资料.分为非代谢综合征(非MetS)组和代谢综合征(MetS)组,对发病后2周和3个月时患者记忆力、执行功能、注意力、视空间等功能进行评价,参照Ballard等方法 观察两组间认知功能演变的差异性.结果 发病后2周和3个月时,94例患者认知损害发生率分别为24.47%(23/94)和22.34%(21/94),其中非痴呆性认知损害发生率分别为21.28%(20/94)和19.15%(18/94),痴呆性认知损害发生率均为3.19%(3/94、3/94).MetS组患者发病2周和3个月时认知损害发生率分别为37.50%(15,40)和35.00%(14/40),与非MetS组之间差异有统计学意义(Z=2.500,P=0.012;Z=2.513,P=0.012);MMSE总评分,以及延迟回忆和画钟测验评分均低于非MetS.组(P<0.05).Mets组患者发病后3个月时认知功能进一步恶化的病例数高于非MetS组患者,差异有统计学意义(Z=2.134,P=0.033).结论 代谢综合征可增加缺血性卒中后认知损害发生率,以非痴呆性认知损害为主,主要累及执行功能、记忆力.其认知状态演变亦呈恶化趋势.     

强直性肌营养不良的肌电图特点分析

目的分析强直性肌营养不良(DM)的肌电图特点。方法对2014至2017年11例诊断为DM1型患者(DM组)和随机选取11例多发性肌炎(PM)患者(对照组)的针极肌电图、神经传导进行比较分析,总结DM患者的肌电图特点。结果 DM组5例行基因检查确诊。(1)DM组复合肌肉动作电位(CMAPs)下降4条(占所有神经传导5%);(2)DM组肌强直电位出现例数(11例)较PM组(1例)多(χ2=18.333,P0.05);(3)DM组近、远端肌肉均受累(18块近端肌肉和19块远端肌肉出现肌源性损害),PM组(21块近端肌肉和2块远端肌肉出现肌源性损害)更易出现近端肌源性损害(χ2=11.344,P=0.001);(4)DM组(8块近端肌肉和20块远端肌肉)出现肌强直放电与PM组(1块近端肌肉和0块远端肌肉)比较,强直性放电的近远端肌肉受累比较,差异无显著性(P=0.310)。结论 DM 1型患者肌电图改变的主要特点为肌强直电位放电伴肌源性损害,且以远端、近端肌肉均受累显著;PM肌电图改变的主要特点为肌源性损害,以近端肌肉受累明显。肌电图特点可以鉴别DM和PM。     

13例淋巴瘤合并周围神经病变临床分析

目的 对淋巴瘤合并周围神经病变的临床特点、辅助检查结果进行分析,并探讨其发病机制.方法 回顾分析13例淋巴瘤合并周围神经病变患者诊断、治疗经过,排除继发性带状疱疹病毒感染、相关治疗的不良反应及其他导致周围神经病变的病因.其中T细胞性非霍奇金淋巴瘤(NHL-T)3例,B细胞性非霍奇金淋巴瘤(NHL-B)9例,1例具体病理类型不详.对其周围神经受累的类型和部位、脑脊液细胞学和免疫组织化学、影像学、电生理学以及腓肠神经活体组织病理学检查结果等进行分析.结果 13例中10例周围神经系统症状出现于淋巴瘤明确诊断之前,其中8例以周围神经系统症状首发:11例脑神经受累,8例腰骶神经根受累,6例同时合并听力减退及腰骶神经根受累.脑脊液检查主要呈现蛋白定量(13例)、白细胞计数(8例)以及脑脊液压力(5例)升高,葡萄糖水平降低(7例);细胞学检查可见异型淋巴细胞(9例);免疫组织化学染色及基因重排检测主要表现为B细胞标记抗原(CD19、CD20、CD79α)阳性(3例),CD20阳性细胞数日增加(1例),以及CD4阳性细胞数目增加、T细胞(抗原识别)受体阳性和抗体IgH阴性(1例).肌电图检查显示,周围神经轴索病变或合并髓鞘损害(9例).腓肠神经活体组织病理学检查呈轴索变性和(或)脱髓鞘病变且无淋巴瘤细胞浸润(3例).头部及腰骶部MRI检查显示,双侧听神经及马尾神经根增粗、强化或脑膜强化.13例中9例系由淋巴瘤细胞直接浸润脑脊膜神经根所致,1例为淋巴瘤转移和局部肿大淋巴结压迫引起,其余3例无明确肿瘤细胞浸润证据,结合临床特点和实验室检查结果,考虑副肿瘤综合征可能.结论 淋巴瘤可通过肿瘤细胞直接浸润或副肿瘤综合征导致周围神经病变;周围神经系统症状在淋巴瘤明确诊断前即可出现,临床应对此提高认识.     

多发性硬化周围神经损害的临床与电生理研究

目的研究多发性硬化(MS)患者周围神经损害的临床特点与电生理改变。方法84例MS患者中,对其中16例有周围神经损害的MS患者(PNMS组)和68例无周围神经损害的MS患者(NPNMS组)的临床及电生理资料进行分析。结果本组MS患者中周围神经损害的发生率为19.0%(16/84)。表现为肢体麻木14例(87.5%),肢体无力12例(75.0%),神经根性疼痛4例(25.0%);腱反射减低15例(93.7%),末梢型感觉障碍13例(81.2%),肌萎缩5例(31.2%)。PNMS组患者的平均年龄[(44.6±12.5)岁]、病程[(39.3±18.3)个月]与NPNMS组[(32.2±11.5)岁、(31.6±17.2)个月]比较差异有显著性(P<0.01,P<0.05)。PNMS组以脊髓型MS(11例,68.7%)多见,NPNMS组以脑型MS(49例,72.1%)多见(均P<0.01)。PNMS组运动神经传导速度(MCV)、感觉神经传导速度(SCV)减慢者分别为79.7%、68.7%,F波异常为75.0%;NPNMS组MCV、SCV减慢者分别为7.9%、5.5%,F波异常为5.9%;两组相比差异有极显著性(均P<0.01)。经皮质类固醇等治疗PNMS组除2例无效外,其余患者均随病情好转而恢复。结论MS合并周围神经损害者年龄偏大,病程较长,脊髓型MS多见;MS出现周围神经损害不影响患者的预后;部分临床上无周围神经损害症状的MS患者神经电生理也有异常,神经电生理检查对MS周围神经损害的诊断有重要意义。     

多发性肌炎／皮肌炎的类固醇治疗及预后

多发性肌炎／皮肌炎(PM／DM)是指排除了细菌，病毒和寄生虫等已知病原体感染后的一组原因未明的特发性炎症性肌病。临床表现为进行性四肢近端肌无力伴或不伴肌痛。当有皮肤损害时即为DM。PM／DM有时合并有胶原血管病或恶性肿瘤，儿童及成人均可患病。PM／DM的发病机制目前认为与自身免疫有关，若能早期诊断并予以及时治疗，预后较好。     

Electrophysiological findings of peripheral neuropathy in newly diagnosed type II diabetes mellitus

This study was aimed at assessing the electrophysiological signs of peripheral neuropathy in diabetes mellitus (DM) type II patients at diagnosis. Nerve conduction studies (NCS) of median, ulnar, peroneal, tibial and sural nerves were performed in 39 newly diagnosed DM subjects and compared to those of 40 healthy controls. Metabolic indices were also investigated. Electrophysiological alterations were found in 32 (82%) of the DM patients, and more than half of them (62.2%) showed multiple (two to five) abnormal parameters. Because most of the subjects (84.4%) had from two to five nerves involved, these alterations were widespread in the seven nerves evaluated. Forty-two percent of the patients had NCS alterations suggestive of distal median mononeuropathy, implying that metabolic factors in DM make the median nerve more susceptible to focal entrapment. A reduced sensory nerve action potential (SNAP) amplitude was observed in the median nerve in 70% of the patients, in the ulnar in 69% and in the sural nerve only in 22%. In the presence of a decrease in the SNAP amplitude of the ulnar or median nerve, the SNAP amplitude of the sural nerve was normal in 82 or 80% of the subjects, respectively. This finding may be in keeping with a distal involvement of the sensory fibres, as explored by routine median or ulnar NCS. No correlation was found between metabolic indices and NCS parameters. In conclusion, a high percentage of newly diagnosed DM patients show signs of neuropathy, and upper limb nerve sensory NCS seem to be more sensitive in detecting it than lower limb NCS.     

Abnormalities of nerve conduction studies in myotonic dystrophy type 1: Primary involvement of nerves or incidental coexistence?

The involvement of peripheral nerves in myotonic dystrophy type 1 (DM1) is controversial and the features of peripheral neuropathy (PN) are not well known. The aim of this study was to assess the frequency of abnormal nerve conduction findings and the electrophysiological characteristics of PN in DM1. We analyzed medical records, data from nerve conduction studies (NCS), and the results of genetic analysis of 18 patients with DM1 and 30 healthy individuals. The early changes identified in NCS were determined using the sural/ulnar sensory nerve action potential amplitude ratio (SUAR). To correlate the neuropathic changes with cardiac abnormality, we compared the corrected Q-wave/T-wave interval (QTc) with the NCS parameters. Eight of 18 patients had abnormal NCS findings. Of these, abnormal peroneal motor nerve conduction and H-reflex abnormalities were most common. Only one patient complained of sensory symptoms and had abnormal sensory and motor nerve conduction compatible with sensorimotor axonal polyneuropathy. There were no significant correlations between SUAR and disease duration, age, gene CTG repeats, or the QTc. The presence of diabetes was not related to abnormal nerve conduction or SUAR. The frequency of PN or abnormal NCS results was lower in our patients with DM1 than in previous studies. Our findings suggest that most abnormal NCS results in DM1 patients are more likely to result from myopathic changes, coincidental neuropathies, or radiculopathies than from primary involvement of the nerve.     

定量温度觉阈值检查在糖尿病周围神经病诊断中的应用

目的 探讨定量温度觉阈值检查(QTT)在糖尿病周围神经病诊断中的应用价值.方法 选取有神经系统症状的169例糖尿病患者[根据病程分为≤5年(69例)和>5年(100例)2个亚组;根据神经传导检测(NCS)是否存在异常分为正常组(45例)和异常组(124例)],并选取年龄匹配的53名健康对照,进行手及足背的冷感觉阈值(CT)、热感觉阈值(WT)、冷痛觉阈值(CPT)、热痛觉阈值(WPT)测定.结果 病程≤5年糖尿病组的手及足背CT[分别为(29.6±1.4)、(26.5±4.3)℃]、WT[(35.9±3.0)、(41.3±4.0)℃]高于健康对照组[手背CT(30.2±1.2)℃,足背CT(29.1±1.5)℃;手背WT(35.0±1.9)℃,足背WT(36.5±1.5)℃;t=3.27、6.63、2.80、8.61,均P<0.05],病程>5年糖尿病组[手背CT(28.2±4.0)℃,足背CT(23.1±7.9)℃;手背WT(37.0±4.7)℃,足背WT(42.6±4.2)℃]高于病程≤5年糖尿病组(t=4.09、4.63、2.55、2.68,均P<0.05),NCS正常的糖尿病组[手背CT(29.5±1.8)℃,足背CT(27.0±4.6)℃;手背WT(35.0±1/9)℃,足背WT(40.9±3.8)℃]高于健康对照组(t=3.22、4.17、3.51、9.95,均P<0.01),差异具有统计学意义.糖尿病组QTT的异常率比NCS的异常率更高,病程>5年糖尿病组NCS、QTr的异常率较病程≤5年糖尿病组高;糖尿病组WT异常率(86.4%,146/169)高于CT异常率(68.1%,115/169,x2=15.49,P<0.01),足背刺激QTT的异常率高于手背刺激QTT的异常率.与健康对照组相比,糖尿病患者的痛觉阈值较高.结论 QTT较常规NCS在糖尿病周围神经病诊断中具有更高的灵敏度,可作为常规NCS的必要补充.下肢热感觉阈值检查是诊断糖尿病周围神经病的敏感指标.     

Peripheral neuropathy in myotonic dystrophy type 1

Myotonic dystrophy 1 (DM1) is characterized by a wide range of clinical features. We aimed to verify the presence of peripheral nerve involvement in a large cohort of DM1 patients and to determine clinical consequences. A total of 93 patients underwent detailed neurological examination and nerve conduction studies. Additionally, balance impairment was assessed with the Berg Balance Scale and health status was evaluated with the SF-36 health survey. Sensory symptoms were not reported and mild sensory signs were found in six patients. Electrophysiological abnormalities consistent with a diagnosis of neuropathy were found in 16 patients (17%). Peripheral nerve involvement was significantly associated with decreased muscle strength (p = 0.001) and absence of Achilles-tendon reflexes (p = 0.003), but not with age or duration of neuromuscular symptoms. It had no significant effect on balance, mental or physical health. In conclusion, peripheral nerve involvement may be one of the multisystemic manifestations of DM1, but is usually subclinical. Other causes should be excluded when sensory symptoms or signs are severe.     

Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study

Involvement of the peripheral nervous system in mitochondrial disorders (MD) has been previously reported. However, the exact prevalence of peripheral neuropathy and/or myopathy in MD is still unclear. In order to evaluate the prevalence of neuropathy and myopathy in MD, we performed sensory and motor nerve conduction studies (NCS) and concentric needle electromyography (EMG) in 44 unselected MD patients. NCS were abnormal in 36.4% of cases, and were consistent with a sensori-motor axonal multineuropathy (multifocal neuropathy), mainly affecting the lower limbs. EMG evidence of myopathy was present in 54.5% of patients, again mainly affecting the lower limbs. Nerve and muscle involvement was frequently subclinical. Peripheral nerve and muscle involvement is common in MD patients. Our study supports the variability of the clinical expression of MD. Further studies are needed to better understand the molecular basis underlying the phenotypic variability among MD patients.     

Superficial peroneal sensory and sural nerve conduction studies in peripheral neuropathy.

The objective of this study was to prospectively evaluate sensory nerve conduction studies (NCS) in the distal lower limbs in the electrodiagnosis of peripheral neuropathy. We prospectively studied 316 consecutive patients with surface stimulation and recording, in comparison with 90 control subjects. A total of 310 patients were found to have lower limb sensory NCS abnormalities. In these patients, the rate of detection of peripheral neuropathy with superficial peroneal NCS (88.5%) was significantly higher (P<0.001) compared with sural NCS (75%). The superficial peroneal NCS appeared to have a higher detection rate for peripheral neuropathy in our study, and its study can be adjunctive to sural NCS.     

Painful sensory neuropathy: prospective evaluation using skin biopsy

OBJECTIVE: In patients presenting with painful, burning feet with minimal signs of neuropathy, the following questions were addressed: 1) How many of these patients have a peripheral neuropathy? 2) What is the role of skin biopsy in establishing a diagnosis of neuropathy? 3) What conditions are associated with the neuropathy? and 4) What laboratory studies are useful in this patient population? METHODS: A total of 117 consecutive patients referred for evaluation were prospectively studied. All underwent nerve conduction studies (NCS) and a battery of blood tests, including antinerve antibodies. If NCS were normal, a punch biopsy of the skin of the distal leg was performed to ascertain the intraepidermal nerve fiber (IENF) density. In a subset of 32 patients, the sensitivity of skin biopsy was compared to quantitative sudomotor axon test (QSART) and quantitative sensory tests (QST). Results: Three groups emerged. Group 1, with abnormal NCS (n = 60, 34 F/26 M, mean age 60 +/- 14 years), represented 51% of the cohort. The majority had neuropathies of undetermined cause, but 18 (30%) had associated conditions. Group 2, with normal NCS and reduced IENF density (n = 44, 29 F/15 M, mean age 57 +/- 14 years), represented 38% of the cohort. Three in this group had associated conditions. Group 3, with normal NCS and IENF density (n = 13, 6 F/7 M, mean age 53 +/- 13 years), represented 11% of the cohort; most had no diagnoses but two had MS. In a comparative subset analysis, skin biopsy was more sensitive than QSART or QST in diagnosing a neuropathy. CONCLUSIONS: Patients presenting with painful feet are heterogeneous, consisting of both large and small fiber sensory neuropathies. In rare cases, a central cause for pain can be found. Over one-third of patients required a skin biopsy to diagnose a small fiber sensory neuropathy. A limited battery of blood tests facilitated diagnosis, but serum antinerve antibodies were not helpful.     

Childhood diabetic neuropathy: a clinical and electrophysiological study

Clinical diabetic neuropathy in childhood is rare, but electrophysiological involvement of the peripheral nerve is more frequent. We assessed clinically and electrophysiologically the peripheral nervous system of 69 children and adolescents suffering from diabetes mellitus (DM). The mean age of the patients was 12.8 years and the mean age at onset of DM was 6.8 years with a mean disease duration of 6.3 years. Seven patients (10%) had clinical neuropathy of which ankle jerk reflex abolition was the most frequent sign. Twenty patients (29%) had a neurophysiological neuropathy prevalently affecting the lower limbs. Peripheral neuropathy was correlated with patient age, older age at onset, duration of DM, height and poor glycaemic control.     

Nerve ultrasound in miller fisher variant of Guillain–Barré syndrome

Introduction: Focal enlargement of the peripheral and spinal nerves, visualized using high‐resolution ultrasound (HRUS), has been reported in early Guillain–Barré syndrome, but not in the Miller Fisher variant. We report the use of HRUS in 2 patients who presented with acute ataxic neuropathy, areflexia, and ophthalmoparesis. Methods: Ultrasound and/or nerve conduction studies (NCS) of peripheral nerves, the vagus, and spinal nerves C5/6 were performed at onset and 2 weeks after immunoglobulin therapy. Results: Both patients fulfilled criteria for diagnosis of Miller Fisher syndrome (MFS). Laboratory findings revealed elevated ganglioside Q1b antibodies in both and an albuminolocytologic dissociation in 1 patient. In addition, 1 patient had NCS evidence for demyelinating neuropathy. However, ultrasound showed focal enlargement in the vagus, the spinal nerves, and/or in the peripheral nerves in both patients. After therapy, nerve enlargement decreased in parallel with clinical improvement. Conclusion: Spinal and/or peripheral nerve enlargement supports the diagnosis of MFS in early phases of the disease. Muscle Nerve 52 : 1106–1110, 2015