发作性运动诱发性舞蹈指痉症1例报告

发作性运动诱发性舞蹈指痉症 (PKC)较少见 ,现报告 1例如下。1　病例　男 ,19岁。发作性头部及右侧肢体不自主扭动 3年 ,于 2 0 0 1年 3月 10日入院。患者 3年前在跑步过程中 ,每当加速或减速时即突然发作右足拇趾痉挛呈背伸状 ,且渐波及小腿、大腿、上肢及同侧颜面。发作时肢体呈扭转屈曲状 ,面部如作鬼脸状 ,发作全过程意识清楚 ,历时仅数秒 ,每日发作数次或十多次 ,几乎每日皆发作。诱发因素可为久坐后起立 ,伸手指他人 ,突然伸展上肢或踢腿等 ,发作时可有肢体发紧样预感 ,有时发作呈头向右转 ,右手不能控制的大幅度扭转挥舞 ,身体向右…     

发作性运动诱发性舞蹈指痉症

目的：探讨发作性运动诱发性舞蹈指痉症（PKC）的临床特点，进一步提高对该病的诊治水平。方法：对5例PKC患者的临床表现及实验室资料进行分析。结果：5例患者来自2个家系，发病年龄13-16岁；临床表现均在运动开始时出现不自主手足及面部异常运动，持续数秒后自行缓解，紧张、恐惧时易发，克制可避免发作。5例检查12例次脑电图，均未见癫痫样放电；3例头颅MRI及T3、T4，血沉、血钙均在正常范围。3例脬用妥泰（100mg/d），完全控制发作，2例间断服苯英钠，亦有效。结论：PKC可能为常染色体显性遗传。临床表现以开始运动时出现发作性锥体外系症状为特征。抗癫痫药治疗效果良好。     

发作性运动诱发性舞蹈指痉症国内文献报道216例分析

目的对发作性运动诱发性舞蹈指痉症的定义、病因发病机制、临床特点、电生理、影像学及治疗预后进行分析。方法以"发作性运动诱发性舞蹈指痉症"或"以发作性运动诱发性运动障碍"为关键词,以中国期刊全文数据库为数据库,以2000年至2005年为限共检索29篇文献,剔除重复文章及病例资料不全的文献,对18篇国内杂志发表及我院诊治的病例共216例患者的临床资料进行分析统计并进行讨论。结果216例患者男∶女=3.5∶1,平均发病年龄13.1岁,有家族史占22.7%,合并癫或良性家族性婴儿痉挛比例明显增高。临床表现均为运动开始时突然出现一侧或双侧肢体及面部的不自主运动,发作持续短暂,发作频繁,发作时意识清晰,发作后无任何不适。发作间期神经系统检查无阳性体征。EEG大部分正常,合并癫者可见样放电,头颅CT或MRI一般正常者可能为原发性发作性运动诱发性舞蹈指痉症,继发性发作性运动诱发性舞蹈指痉症一般有相应病灶或疾病。使用小剂量的抗癫药可控制,预后良好。结论发作性运动诱发性舞蹈指痉症分为散发性和家族性,呈常染色体显性遗传;可为原发性,也可继发于脑外伤,缺氧性脑病,多发性硬化,基底节钙化,甲减等,其病因及发病机制至今尚不清楚,临床特点为运动开始时突然出现一侧或双侧肢体及面部的不自主运动,抗癫药有效,预后良好。     

发作性运动诱发性舞蹈手足徐动症

目的探讨发作性运动诱发性舞蹈手足徐动症的发病机制、临床特征及电生理表现。方法回顾性分析18例发作性运动诱发性舞蹈手足徐动症（PKC）患者的临床资料并结合相关文献进行讨论。结果18例患者，男14例，女4例；均为青少年发病，1例有家族病史，其外祖母、母亲年青时（〈20岁）、妹妹均有类似发作史，1例25岁发病．后证实有原发性甲状旁腺功能低下。发病均由突然运动诱发，表现为一侧或双侧肢体及面部（眼肌、舌肌等）的不自主运动．多持续数秒钟自行缓解。发作中无意识障碍。发作间期无异常表现。18例患者神经系统检查均未见异常，均行头CT和（或）MRI检查，3例有影像学异常。所有患者均行脑电图（EEG）检查，其中3例有痫样放电，余正常。诊断为特发性发作性运动诱发性舞蹈手足徐动症（PKC／PKD），经服用卡马西平、丙戊酸钠等药物后发作均得到有效控制。结论PKC由突然运动诱发．表现为发作性不自主运动等锥体外系症状。可呈常染色体显性遗传，亦可散发；可为特发性，也可继发于多发性硬化、原发性甲状旁腺功能低下等疾病。部分患者EEG有痫样放电，抗癫痫药物治疗有效。提示PKC的发病机制可能与癫痫类似，但预后良好。     

发作性运动诱发性舞蹈手足徐动症12例临床分析

发作性运动诱发性舞蹈手足徐动症（PKC）是一种少见的以发作性运动障碍为主的神经系统疾病,从上世纪60年代初期开始报道并逐渐被认识。现将我院门诊诊治的12例PKC患者临床资料分析如下。     

发作性运动诱发性运动障碍临床分析

目的探讨发作性运动诱发性运动障碍的临床特点。方法对23例PKD患者的临床资料进行分析,归纳其特点。结果 23例患者起病年龄6~18岁,病程1~27a,男性占大多数,男女比例为3.6∶1。突发启动的自主运动诱发,以单侧肢体舞蹈样手足徐动多见,部分表现为双侧,持续10s左右,无意识障碍,脑电图、头颅MRI、CT正常。小剂量卡马西平控制发作。结论 PKD是一种发作性运动诱发的、短暂的局部或全身不随意运动,卡马西平治疗有效。     

发作性运动诱发性舞蹈手足徐动症（附11例报告）

发作性运动诱发性舞蹈手足徐动症(PKC)是一种少见的以发作性运动障碍为主的神经科疾病,现将笔者对11例PKC患者的诊治情况报告如下。11例患者,男∶女=9∶2,年龄11～27岁,起病6～18岁,病程3个月～17年。有PKC家族史1例,癫家族史1例,自身合并癫(全身强直阵挛发作)1例临床表现:     

托吡酯治疗发作性运动诱发性舞蹈手足徐动症的疗效观察

发作性运动诱发性运动障碍是一种由突然随意运动诱发的发作性运动障碍,可以分为运动诱发性舞蹈手足徐动症(PKC)和运动诱发性肌张力障碍(PKD)。其病理机制至今未明,可用多种抗癫癎药治疗,但尚未有使用托吡酯(TPM)治疗的报道,现将我们用TPM治疗8例的疗效报告如下。     

发作性运动诱发性舞蹈样手足徐动症52例临床分析

目的 探讨发作性运动诱发性舞蹈样手足徐动症(PKC)的临床特点及对药物治疗的反应.方法 对52例PKC患者临床表现、实验室资料及治疗经过进行分析.结果 52例患者发病年龄6～21岁,病程2个月～24年,79%为男性.临床表现为发作性一侧或双侧肢体、头面部、躯干不自主运动,诱发因素为突然运动、紧张、惊吓.持续时间一般为数秒.发作时无意识障碍,发作间歇期完全正常.对抗癫(癎)药物有良好反应. 结论 PKC是一种由运动诱发的、短暂的发作性局部或全身不随意运动,癫(癎)药治疗效果好.     

发作性运动诱发的舞蹈手足徐动症36例临床分析

<正> 发作性运动诱发的舞蹈手足徐动症(Paroxysmal kinesi-genic choreoathetosis,PKC)又称为发作性运动诱发的运动障碍(Paroxysmal kinesigenic dyskinesia,PKD)是一类少见的常染色体显性遗传病,表现为由突然的运动诱发的不自主运动发作,发作间期正常。     

Localization and Mutation Detection for Paroxysmal Kinesigenic Choreoathetosis

Backgrounds Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal-dominant movement disorder characterized by attacks of paroxysmal involuntary movements. To date, the causative gene has not been discovered. Purpose The purpose of the study is to localize the causative region and detect the causative mutation. Methods A PKC family including 16 subjects (5 cases and 11 controls) in Zhejiang Province was recruited. Nine microsatellite markers on chromosome 16 were selected and genotyped. Two-point LOD scores were calculated. After preliminary localization, CACNG3, IL4R and ABCC11 were selected as candidate genes and were detected by polymerase chain reaction-sequencing or PCR-denaturing high performance liquid chromatography (PCR-DHPLC). Results The maximal two-point LOD score was obtained in D16S3081 with 1.21, and haplotype analysis revealed almost all of individuals carrying 5-3-8-3-4-2-5-5-6 in D16S3093/D16S685/D16S690/D16S3081/D16S3080 D16S411/D16S3136/D16S3112/D16S3057 were affected by PKC. There were no causative mutation in CACNG3, IL4R and ABCC11 genes. Conclusions The culprit gene for PKC was located in ~19.34 cM region between 16p12.1–q13, and CACNG3, IL4R and ABCC11 were all ruled out as the cause.     

Paroxysmal Kinesigenic Choreoathetosis with Abnormal Electroencephalogram During Attacks

An 18-year-old man with paroxysmal kinesigenic choreoathetosis (PKC) showed rhythmic electroencephalographic (EEG) discharges of 5-Hz spikes over the entire scalp during episodes. The EEG findings in this case suggest that PKC may have an epileptogenic basis.     

Familial Paroxysmal Kinesigenic Choreoathetosis: An Electrophysiologic and Genotypic Analysis

PURPOSE: We report a pedigree of familial paroxysmal kinesigenic choreoathetosis (PKC) in which five of 18 members are affected. The pathophysiologic basis for PKC is still uncertain; reflex epilepsy versus dysfunction of basal ganglia. We examined (a) whether there were ictal discharges during the attacks, and (b) a linkage between PKC and possible DNA markers linked to several familial epileptic or movement disorders. METHODS: Video-monitoring EEG was performed in two patients with PKC during attacks elicited by movements of the lower extremities. Blood samples for DNA studies were obtained from 15 members of the pedigree. Fourteen polymorphic markers on chromosomes 1p, 2q, 6p, 10q, and 20q were genotyped, and two-point lod scores were calculated for each marker under a dominant model. RESULTS: No ictal discharges were found during the attacks in both patients. We could not obtain significant linkage of PKC with any marker examined. CONCLUSIONS: The video-monitoring EEG findings in our cases strongly suggested that the etiology of PKC should be considered distinct from that of reflex epilepsy. However, the patients in this pedigree had experienced generalized convulsions in their infancies; thus we could not deny the possibility of an epileptogenic basis for PKC. There was no strong evidence for a linkage of the gene for PKC with the candidate regions on 1p, 2q, 6p, 10q, or 20q.     

Typical and Atypical Forms of Paroxysmal Choreoathetosis

Two children with clinical pictures of paroxysmal kinesinogenic choreoathetosis and paroxysmal dystonic choreoathetosis are described and compared with previous reports with regard to diagnostic procedures, therapeutic approach and prognosis. A third case, characterized by paroxysmal dyskinesia induced by exercise and associated with choreiform nonprogressive signs, is also described. Such an association has not been reported previously. This unusual clinical picture indicates the possibility of intermediate forms in the paroxysmal choreoathetosis group and suggests a relationship between paroxysmal motor disorders and benign familial chorea with early onset.     

多巴反应性肌张力失常

目的提高对多巴反应性肌张力失常的认识与重视。方法描述近3年诊治的7例多巴反应性肌张力失常患者的临床表现、辅助检查与治疗结果并进行文献复习。结果7例患者均无家族史,发病年龄为6～29岁,平均(13.43±7.93)岁;其中4例患者诊断前的平均病程为1.5年,余3例患者病程较长,分别为47、25和16年。7例患者均为缓慢起病,表现为四肢发僵,活动困难或伴有肢体震颤、足趾屈曲及足内翻,临床症状晨轻暮重。体格检查发现,四肢肌张力呈强直性或齿轮样增高,双下肢腱反射活跃甚至亢进,4例病理征阳性。血清学、脑脊液、头部CT、MR以及神经电生理等各项辅助检查均于正常范围之内。小剂量多巴制剂对所有患者均有明显疗效,平均服用剂量为105.17mg/d,应用最长者达14年,且无须增加剂量。结论多巴反应性肌张力失常为罕见的遗传性运动障碍疾病,临床表现典型者诊断不难。小剂量多巴制剂有显著且持久的疗效;早期应用安坦、金刚烷胺等药物治疗也有效。应注意与帕金森病鉴别。     

Paroxysmal kinesigenic choreoathetosis

A healthy intelligent 13.5-year-old boy is reported who presented with paroxysmal kinesigenic choreoathetosis. He had had unilateral tonic spasms for 2 months. In a stressful situation, especially after a period of immobility, a sudden voluntary movement provoked a dystonic-choreoathetoic posturing of the left arm and leg. Attacks were brought on, for instance, by standing up quickly from a sitting position. They lasted only 5–10 s, without loss of consciousness and occurred up to ten times daily. Between the attacks there were no abnormalities. Family history was non-contributory. Neurological examination and laboratory findings, including repeated EEGs, were all negative. The child responded very well to phenytoin treatment and has now been completely free of dystonic attacks for a period of 9 months. The importance of early recognition of this syndrome and the differential diagnosis with reflex epilepsy and other forms of dystonic choreoathetosis is discussed.     

The Pathogenesis of Paroxysmal Kinesigenic Dyskinesia: Current Concepts

Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by recurrent and transient episodes of involuntary movements, including dystonia, chorea, ballism, or a combination of these, which are typically triggered by sudden voluntary movement. Disturbance of the basal ganglia-thalamo-cortical circuit has long been considered the cause of involuntary movements. Impairment of the gating function of the basal ganglia can cause an aberrant output toward the thalamus, which in turn leads to excessive activation of the cerebral cortex. Structural and functional abnormalities in the basal ganglia, thalamus, and cortex and abnormal connections between these brain regions have been found in patients with PKD. Recent studies have highlighted the role of the cerebellum in PKD. Insufficient suppression from the cerebellar cortex to the deep cerebellar nuclei could lead to overexcitation of the thalamocortical pathway. Therefore, this literature review aims to provide a comprehensive overview of the current research progress to explore the neural circuits and pathogenesis of PKD and promote further understanding and outlook on the pathophysiological mechanism of movement disorders. © 2023 International Parkinson and Movement Disorder Society.     

Paroxysmal Kinesigenic Segmental Myoclonus due to a spinal cord glioma.

We report an 18-year-old man with paroxysmal jerking movements of the left arm since age 7 years. These were invariably precipitated by startle or sudden movements. He was subsequently diagnosed with a cervical cord anaplastic astrocytoma on MRI. We could not identify previous reports of paroxysmal myoclonus secondary to a spinal cord neoplasm. We have coined the term Paroxysmal Kinesigenic Segmental Myoclonus to describe this entity.