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目的 研究一个进行性肌阵挛癫(癎)家系的临床特点、遗传性特征并复习文献.方法 搜集并整理一个进行性肌阵挛癫(癎)家系患者临床表现、辅助检查及影像学资料,分析其临床特点和遗传性特征.结果 该家系呈母系遗传,先证者表现为进行性肌阵挛癫(癎)发作,同时伴有近端肌无力、肌肉萎缩、腱反射减弱.肌电图提示肌源性改变,头颅磁共振提示... 相似文献
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进行性肌阵挛癫癎7例临床分析 总被引:1,自引:1,他引:0
目的:分析进行性肌阵挛癫(PME)的临床特点。方法:回顾性分析7例PME患者病案。结果:①PME于童年或青少年起病。②随病情进展所有患者均有不同程度的智能减退。③癫发作形式:全身性、局灶性或节段性的肌阵挛,无规律、不同步、不对称的;通常合并全身强直阵挛发作或部分性发作。④有小脑、锥体束等神经系统受累症状。结论:PME主要临床表现除癫、肌阵挛和进行性神经功能衰退外,视觉发作也是比较明显的症状,脑电图检查是必不可少的。对某些患者及亲属进行乳酸运动试验有助于本病中线粒体病(MERRF)型的诊断。 相似文献
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目的:探讨儿童肌阵挛癫(癎)患儿的临床、脑电图(EEG)和治疗特点.方法:对35例肌阵挛癫(癎)患儿的临床表现、录像脑电图(V-EEG)及抗癫(癎)药物的治疗效果进行回顾性分析.结果:35例均有肌阵挛发作,以肌阵挛为唯一的发作形式9例,其它26例合并强直阵挛发作、强直发作、部分性发作等发作类型.30例患儿EEG可见全导... 相似文献
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王凤楼 《癫癎与神经电生理学杂志》2011,(1):25-27
目的:探讨左乙拉西坦(LEV)对青少年肌阵挛性癫(癎)(JME)的疗效.方法:30例JME患者中,男16例,女14例,平均年龄19.63岁,分为两组.LEV治疗组 15例,单用4例,与丙戊酸或(和)氯硝西泮合用11例,治疗剂量500~1 000 mg/d.随访时间2个月至9年,平均19.20个月;其他药物治疗组15例,... 相似文献
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目的:探讨肌阵挛失神发作的临床症状学、神经电生理学特点及治疗效果.方法:报告1例肌阵挛失神发作的临床表现、脑电图、肌电图特点及治疗效果,并结合文献进行回顾性分析.结果:肌阵挛失神发作临床表现为失神伴双侧节律性肌阵挛,常伴发肢体的强直,脑电图表现为双侧、广泛、节律性3 Hz的棘慢复合波,肌电图则表现为与发作期放电频率一致的肌电暴发.此类患者对药物治疗反应较差,伴有强直发作的患者可行胼胝体切开术,该手术可有效减少强直发作导致的跌倒.结论:肌阵挛失神发作病程多样,大部分患者药物治疗反应差,伴有强直发作的患者可以考虑手术治疗. 相似文献
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进行性肌阵挛癫痫临床研究(附12例报告) 总被引:1,自引:0,他引:1
目的 研究进行性肌阵孪癫痫(progressive myoclonie epilepsies,PMEs)各型的特点和神经病理学特征.方法 对12例患者进行性肌阵挛癫痫患者临床表现、辅助检查和神经病理学结果进行分析.结果 12例患者中有7例患者腋窝皮肤活检发现Lafora小体,1例肌肉活检肌细胞内发现破碎红纤维,4例正常.针对癫痫发作形式选用丙戊酸钠、氯硝西泮治疗.并采用大剂量脑复康24 s/d-32 g/d静脉注射2周,大部分患者肌阵挛明显减轻,共济失调好转.结论 PMEs是一组少见的遗传疾病,如临床怀疑PMEs,除必需的临床电生理检查外,应该行神经、肌肉、皮肤活检协助诊断. 相似文献
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目的:分析进行性肌阵挛癫痫(PME)的临床特点。方法:回顾性分析7例PME患者病案。结果:①PME于童年或青少年起病。②随病情进展所有患者均有不同程度的智能减退。③癫痫发作形式:全身性、局灶性或节段性的肌阵挛,无规律、不同步、不对称的;通常合并全身强直-阵挛发作或部分性发作。④有小脑、锥体束等神经系统受累症状。结论:PME主要临床表现除癫痫、肌阵挛和进行性神经功能衰退外,礼堂发作也是比较明显的症状,脑电图检查是必不可少的。对某些患者及亲属进行乳酸运动试验有助于本病中线粒体病(MERRF)型的诊断。 相似文献
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脑活检诊断Lafora型进行性肌阵挛癫痫 总被引:2,自引:1,他引:1
目的 探讨肌阵挛癫痫的病因及其临床诊断方法。方法 对1 例临床诊断肌阵挛癫痫的病人在临床资料分析的同时,进行脑活体组织检查及随访,并结合文献进行分析。结果 在活检脑组织的 H E、 P A S 及 Alcian blue 染色中发现 Lafora 小体。结论 脑活检证实了此例肌阵挛癫痫是 Lafora 型进行性肌阵挛癫痫,提示脑活检是目前诊断此病的最有效的方法。 相似文献
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INTRODUCTION: Spinal muscular atrophies (SMAs) are a group of degenerative diseases primarily affecting the anterior horn cells of the spinal cord and motor cells of cranial nerve nuclei. Even if the clinical picture is mainly dominated by the diffuse muscular atrophy, in some cases, patients may show associated, atypical clinical features ("SMA plus"). In particular, the association of SMA and progressive myoclonic epilepsy (PME) has been rarely described. CASE REPORT: We present the clinical and electrophysiological data of a boy with childhood-onset SMA associated with PME and reviewed cases of the literature. CONCLUSION: The association of SMA with PME may constitute a separate and, probably, genetically independent syndrome with unique clinical and electroencephalographic findings or, at least, a variant of a neurodegenerative or metabolic disease, due to yet unknown causes. 相似文献
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Hyuna Kim Sangmoon Lee Murim Choi Hunmin Kim Hee Hwang JiEun Choi Jong Hee Chae Ki Joong Kim Byung Chan Lim 《Brain & development》2018,40(5):429-432
Purpose
A recurrent de novo mutation in KCNC1 (c.959G?>?A, p.Arg320His) has been identified recently as one of the important genetic causes of progress myoclonic epilepsy (PME). The clinical phenotype resulting from this mutation has been named as myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK). This finding carries important clinical implications in that autosomal dominant inheritance and de novo occurrence need to be considered when conducting genetic tests in patients with PME. We present two familial cases of MEAK in siblings with a recurrent p.Arg320His mutation in KCNC1.Method
Whole exome sequencing and subsequent Sanger sequencing were performed for the cases and their parents.Results
A recurrent p.Arg320His mutation in KCNC1 was identified in the two brothers who showed characteristic features of MEAK: near normal early development, onset of myoclonus around 10?years of age, infrequent generalized tonic-clonic seizures, relatively mild cognitive impairment, and generalized epileptiform discharges. Interestingly, the asymptomatic mother was suspected as being mosaic for this mutation. This finding could lead to misleading inheritance patterns and make genetic diagnosis of PME more complicated.Conclusions
Our familial MEAK cases show that consideration of parental mosaicism in addition to meticulous phenotyping is needed when conducting KCNC1 genetic testing. 相似文献13.
目的研究青少年肌阵挛性癫痫(JME)的临床特点及导致误诊的主要原因。方法对61例JME患者的临床和脑电图(EEG)资料进行回顾性分析。结果肌阵孪是最常见的首发症状,其次为肌阵挛加全身强直一阵孪发作(GTCS)。导致误诊最常见的原因是医师对肌阵挛发作缺乏认识,其次是临床和EEG的非对称性表现。结论JME的正确诊断依赖于医师对此综合征的深刻了解,EEG只能作为辅助诊断工具。 相似文献
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Juvenile myoclonic epilepsy: clinical and EEG features 总被引:3,自引:0,他引:3
We aimed to characterize the clinical profile and EEG features of 43 patients with juvenile myoclonic epilepsy. In a retrospective design we studied the records of, and re-interviewed, 43 patients diagnosed with JME from the epilepsy clinic data base. Furthermore, available EEGs were re-evaluated. Of the patients 72% were female and 28% male. Average age of onset was 13 (5.5–22) years for absences, 16 (5.2–25) years for myoclonic seizures, and 16 (8–29) years for generalized tonic–clonic seizures. Forty-two percent reported asymmetric or unilateral myoclonic jerks. Commonly reported precipitating factors were sleep deprivation (84%), stress (70%), and alcohol consumption (51%). EEG findings included rapid spike-wave and polyspike-wave. 相似文献
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Zhixian Yang Jiao Xue Hui Li Ping Qian Xiaoyan Liu Yuwu Jiang Yuehua Zhang 《Clinical neurophysiology》2017,128(9):1656-1663
Objective
To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in early childhood, and discuss its classification.Methods
Forty-two children were retrospectively recruited between January 2006 and June 2015.Results
The mean age of seizure onset was 40.5 months. They were divided into 4 groups: myoclonic seizures alone; predominant myoclonus combined with GTCS; predominant myoclonus combined with absences; predominant myoclonus combined with both GTCS and absences. Interictal EEG showed generalized spike- or polyspike-wave discharges at 2–4 Hz. Seizures were controlled in 22 patients at a mean age of 60.5 months. The psychomotor development was normal (30/37) or mildly delayed (7/37).Conclusions
We reported a cohort of patients with early childhood myoclonic epilepsy (ECME), with the following characteristics: Seizures started below 5 years old in otherwise normal children; Seizure types included myoclonic seizures alone or combined with GTCS and/or absences; Febrile or afebrile GTCS might appear firstly; Interictal EEG showed generalized spike- or polyspike-wave; Seizures usually were in remission before adolescence with normal development or mild cognitive or behavioral deficits in most.Significance
ECME might be an independent epileptic syndrome not established by International League Against Epilepsy (ILAE) previously. 相似文献16.
《Clinical neurophysiology》2021,132(10):2464-2472
ObjectiveTo develop and test wearable monitoring of surface electromyography and motion for detection and quantification of positive and negative myoclonus in patients with progressive myoclonic epilepsy type 1 (EPM1).MethodsSurface electromyography and three-dimensional acceleration were measured from 23 EPM1 patients from the biceps brachii (BB) of the dominant and the extensor digitorum communis (EDC) of the non-dominant arm for 48 hours. The patients self-reported the degree of myoclonus in a diary once an hour. Severity of myoclonus with action was evaluated by using video-recorded Unified Myoclonus Rating Scale (UMRS). Correlations of monitored parameters were quantified with the UMRS scores and the self-reported degrees of myoclonus.ResultsThe monitoring-based myoclonus index correlated significantly (p < 0.001) with the UMRS scores (ρ = 0.883 for BB and ρ = 0.823 for EDC) and with the self-reported myoclonus degrees (ρ = 0.483 for BB and ρ = 0.443 for EDC). Ten patients were assessed as probably having negative myoclonus in UMRS, while our algorithm detected that in twelve patients.ConclusionsWearable monitoring was able to detect both positive and negative myoclonus in EPM1 patients.SignificanceOur method is suitable for quantifying objective, real-life treatment effects at home and progression of myoclonus. 相似文献
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Jayalakshmi SS, Srinivasa Rao B, Sailaja S. Focal clinical and electroencephalographic features in patients with juvenile myoclonic epilepsy. Acta Neurol Scand: 2010: 122: 115–123.© 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Objective – To identify prevalence and factors associated with occurrence of focal clinical and electroencephalogram (EEG) abnormalities in patients with juvenile myoclonic epilepsy (JME). Materials and methods – Clinical asymmetries in the seizures and focal EEG abnormalities were analyzed in 266 patients with JME. Results – All the patients had myoclonic jerks (MJ) and generalized tonic‐clonic seizures (GTCS); 56 (21%) had absence seizures. Asymmetry in clinical seizures was reported in 45 (16.9%) and focal EEG abnormalities were noted in 92 (45.5%) patients. Amplitude asymmetry or focal onset of generalized discharges was noted in 41 (44.6%) and independent focal EEG abnormalities in 30 (32.6%) patients. A statistically significant association was seen with the presence of GTCS and MJ (P = 0.007), a family history of epilepsy (P = 0.001) and drug resistance (P = 0.04) and the occurrence of focal EEG abnormalities. Conclusion – Patients with JME showed focal clinical and EEG features. These features should not be misinterpreted as indicative of partial epilepsy. 相似文献
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Focal semiologic and electroencephalographic features in patients with juvenile myoclonic epilepsy 总被引:6,自引:0,他引:6
PURPOSE: A few reports have described focal electroencephalographic or clinical features or both of juvenile myoclonic epilepsy (JME), but without video-EEG documentation. We examined focal clinical and EEG features in patients with JME who underwent video-EEG monitoring. METHODS: Twenty-six patients (nine males and 17 females) who had seizures recorded during video-EEG monitoring were included. Age at seizure onset was 0 to 22 years (mean, 12.3 years), and age at monitoring was 12 to 44 years (mean, 26.5 years). In one patient with left parietooccipital epilepsy, primary generalized tonic-clonic seizures developed after resection of the parietal tumor. Two patients had both temporal lobe epilepsy and JME. Videotaped seizures in each patient were analyzed. Interictal and ictal EEG also were analyzed for any focal features. RESULTS: Focal semiologic features were observed in 12 (46%) of 26 patients. Six patients had focal myoclonic seizures, and two had Figure 4 sign: one with version to the left, and another had left version followed by Figure 4 sign, and left arm clonic seizure. Their ictal EEGs were generalized at onset but with a lateralized evolution over the right hemisphere. The patient who had both JME and left parietooccipital epilepsy, right arm clonic seizure, and Figure 4 sign was seen during a generalized EEG seizure. Interictally, one patient had temporal sharp waves, and another had run of spikes in the right frontal region. CONCLUSIONS: Fourteen (54%) of 26 patients with JME exhibited focal semiologic or electroencephalographic features or both. Video-EEG was essential in reaching a correct diagnosis and choosing an appropriate antiepileptic drug regimen. 相似文献
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Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy
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Houmin Yin MD Xueping Ding MD Fei Xie MD Xingjiao Lu MD Zhiyuan Ouyang MD Yuting Lou MD Xia Qiu MD Zhongjin Wang MD Jianfeng Xiao MD PhD Meiping Ding MD Wei Luo MD PhD 《Movement disorders》2016,31(11):1704-1710