发作性运动障碍1例报告

发作性运动障碍是一类罕见的神经系统疾病，其临床特点是反复发作的不自主运动，不伴意识障碍。根据诱因、发作持续时间及病因等将本病分为四型：发作性运动诱发的异常运动(PKD)；发作性非运动诱发的异常运动(PNKD)；发作性持续运动诱发的肌张力障碍(PED)；夜间发作性肌张力障碍(HPD)。现将笔者遇到的1例PKD报告如下。     

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。方法依据Demirkima等的诊断标准对19例患者进行确诊，并对其临床资料进行分析。结果本组患者发病年龄为7～16岁，随年龄增长病情逐渐缓解；通常由突然随意运动后而出现，表现肢体（最常受累）、躯干、颈部或面部的肌张力障碍，持续数秒至数十秒，意识清楚；发作间歇期运动功能正常；发作期及间歇期脑电图、神经影像学检查多正常；对抗癫痫药物反应良好。结论发作性运动诱发性运动障碍是临床上较为少见的疾病，容易误诊，但临床疗效及预后良好。     

12例发作性运动诱发性肌张力障碍的临床、脑电图特点及文献复习

目的观察发作性运动诱发性肌张力障碍(PKD)的临床表现、脑电图特征,提高对本病的认识及选择有效的治疗药物。方法回顾性分析12例PKD患者的临床资料、脑电及影像学改变,并结合文献进行总结分析。结果临床症状表现为发作性运动诱发性手足扭转、肢体僵直、舞蹈手足徐动征等,有明确的运动诱发因素,同步脑电记录无异常,正确选择抗癫痫药物可有效控制其发作。结论 PKD是一种少见的运动障碍疾病,应与癫痫、假性发作、TIA、部分性发作等相鉴别。对抗癫痫药物敏感,早期诊断早期治疗预后较好。     

家族性遗传性发作性运动诱发性运动障碍研究进展

发作性运动障碍是一类以发作性肢体不自主运动和躯体姿态异常,不伴有意识障碍为特征的疾病.临床上主要有两类：运动诱发型,称为发作性运动诱发性舞蹈手足徐动症（paroxysmal kinesigcnic chmeoathetosis,PKC）,近几年称之为发作性运动诱发性运动障碍（paroxysmal kinesigcnic dyskinesias,PKD）;非运动诱发型,称为发作性肌张力障碍性舞蹈手足徐动症或发作性非运动诱发性运动障碍（paroxysmal dystonic choreoathetosis or paroxysmal non-kinesigenic dyskinesias,PDC/PNKD）[1,2].     

发作性运动诱发性运动障碍(附7例临床报道)

目的探讨发作性运动诱发性运动障碍(PKD)的临床特点,以加强对本病的认识。方法分析7例PKD患者的临床资料。结果7例患者平均发病年龄14岁,男性多见,临床主要表现为由突然起始动作诱发的发作性姿势性肌张力障碍,单侧受累多见,发作时间不超过2min,发作时意识清楚,口服卡马西平片均得到有效控制。结论本病的诊断依靠对其临床特点的认识,卡马西平治疗效果好。     

发作性运动障碍的临床特征及发病机制

目的 探讨发作性运动障碍（PMD）的临床特征及发病机制。方法 回顾性分析5例发作性运动诱发舞蹈手足徐动症（PKC）和2例发作性持续运动诱发肌张力障碍（PED）患者的临床资料。结果 5例PKC发作均南突然运动诱发,表现肌肉僵直、肌张力增高3例,表现肢体扭动、肌张力不全3例（其中1例先为肢体僵直后扩展为周身扭动）。2例PED由持续运动诱发,表现为肢体不自主运动,持续数秒至数分钟缓解。脑电图（EEG）或动态脑电图（AEEG）示痫样放电5例,头部CT或MRI检查正常5例,异常2例。4例PKC予卡马西平治疗有效,1例PED予较大剂晕丙戊酸钠有效。结论PMD表现为发作性锥体外系症状,多由突然运动诱发。大部分病例的EEG有痢样放电,抗癫痫药物治疗有效。提示PMD的发病机制可能与癫痫类似或相同。     

家族性发作性运动诱发性运动障碍的研究现状和展望

1941年，Smith和Heersema首次描述了3例无血缘关系，表现为运动诱发的、持续5～10s的发作性肌张力障碍的病例。此后，Lance和Weber分别报道了一个发作性肌张力障碍的家系。Kertesz则于1967年首次将这种疾病称为发作性运动诱发的舞蹈手足徐动症（paroxysmal kinesigenic choreoathetosis，PKC），近年普遍称之为发作性运动诱发性运动障碍（paroxysmal kinesigenic dyskinesia，PKD）。     

发作性运动障碍1例报告

发作性运动障碍是一类罕见的神经系统疾病 ,其临床特点是反复发作的不自主运动 ,不伴意识障碍。根据诱因、发作持续时间及病因等将本病分为四型 :发作性运动诱发的异常运动(PKD) ;发作性非运动诱发的异常运动 (PNKD) ;发作性持续运动诱发的肌张力障碍 (PED ) ;夜间发作性肌张力障碍(HPD)。现将笔者遇到的 1例PKD报告如下。1　临床资料　　患者女性 ,3 5岁。 17年前无明显诱因下出现右侧上下肢不自主扭动 ,在惊吓或紧张时易发 ,每次持续 1～ 2min ,无意识丧失 ,缓解时肢体活动正常 ,睡眠时不发作 ,但惊醒后易发作 ,患者开始时每天发作…     

发作性运动诱发性运动障碍36例临床及影像学研究

目的观察发作性运动诱发性运动障碍(PKD)的临床特征及影像学改变,探讨其发病机制。方法详细观察36例PKD的临床特征,影像学和脑电图改变,并综合文献,简述其发病机制及遗传规律。结果36例均由运动诱发,呈发作性运动诱发性肌张力障碍30例,发作性运动诱发性舞蹈手足徐动症6例,发作时意识清楚,影像学有异常者4例,脑电图1例放电。抗癫痫药疗效好。结论发作性运动障碍是一种少见的运动障碍疾病,临床表现类似癫痫,可能是一种离子通道病,与基底节区功能障碍关系密切,大部分抗癫痫药物治疗有效。     

发作性运动障碍1例报告

发作性运动障碍是一类少见的神经系统疾病，表现为发作性肌张力障碍、舞蹈样动作或舞动样动作，或在正常活动背景下发生的任何肌张力障碍性疾患。根据诱因、发作时间和病因学可分为四型：发作性运动诱发的异常运动（PKD）、发作性非运动诱发的异常运动（PNKD）、发作性持续运动诱发的肌张力障碍（PED）、夜间发作性肌张力障碍（HPD）。现将笔者遇到的1例PKD报告如下。     

发作性运动诱发性舞蹈指痉症

目的 对发作性运动诱发性舞蹈指痉症的临床特点、电生理表现及发病机制等进行分析。方法 对2001-2003年收治的4例发作性运动诱发性舞蹈指痉症患的临床资料进行分析并复习近年献。结果 4例患均为青年，无家族遗传史，临床表现均为在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，持续数秒钟后可自行缓解，发作期间无意识障碍，发作后无任何不适。4例患神经系统检查、脑电图以及头部CT和(或)MRI检查均无异常发现，诊断为特发性发作性运动诱发性舞蹈指痉症。经服用卡马西平等药物后发作均得到有效控制。结论 发作性运动诱发性舞蹈指痉症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、特发性甲状旁腺功能减退症等其他疾病。发作性运动诱发性舞蹈指痉症的发病机制尚不清楚，其临床特征为运动诱发的一侧或双侧上下肢及面部的不自主运动，对抗癫痫药物敏感，预后良好。     

发作性运动障碍(附33例临床分析和文献复习)

目的　了解发作性运动障碍的临床特点以及治疗方法。方法　分析 33例发作性运动障碍病例的临床表现和实验室检查。结果　 (1)发作性运动诱发性运动障碍 (PKD) 32例 (96 .97% ) ;(2 )发作性非运动诱发性运动障碍 (PNKD) 3例 (9.0 9% ) ;(3)发作性过度运动导致的运动障碍 (PED) 6例 (18.18% ) ;(4)发作性睡眠诱发性运动障碍 (PHD) 3例 (9.0 9% )。除 2 4例为单纯 PKD外 ,其余病例均与其它类型互相重叠。 EEG大多正常 (32 /33) ,32例 CT/MRI正常。部分可合并癫痫 (5 /33) ,抗癫痫治疗多数 (2 9/33)有效。结论　发作性运动障碍是一种少见的运动障碍疾病 ,和癫痫有一定关系 ,各型可互相重叠 ,EEG大多正常 ,大部分抗癫痫药物治疗有效。     

发作性运动障碍（附8例临床报道）

目的 :总结发作性运动障碍中PKC的临床特征 ,并对其发病机制加以探讨。方法 :对 8例PKC患者临床表现及实验室资料进行分析。结果 :本组中 8例患者发病年龄 8～ 14岁 ,病程 1～ 10年 ,87%为男性。临床表现均由突发运动诱发 ,由久坐、久立后突然改变体位 ,表现为一侧或双侧不自主肢体舞动、躯干扭动和面部异常运动 ,持续数秒钟自行缓解 ,发作时意识清楚 ,2例EEG轻度异常 ,6例正常EEG中有 2例 2 4h动态脑电图示样放电 ,8例服用少量卡马西平完全控制发作。结论 :PKC是发作性运动障碍中一类疾病 ,以开始运动时出现发作性锥体外系症状为特点 ,发作范围局部或全身 ,是可以治愈的 ,抗癫药治疗效果良好     

Secondary paroxysmal dyskinesias.

Paroxysmal dyskinesias (PxDs) are involuntary, episodic movements that include paroxysmal kinesigenic (PKD), paroxysmal nonkinesigenic (PNKD), and paroxysmal hypnogenic (PHD) varieties. Although most PxDs are primary (idiopathic or genetic), we found 17 of our 76 patients with PxD (22%) to have an identifiable cause for their PxD (10 men; mean age, 41.4 years). Causes included peripheral trauma (in three patients), vascular lesions (in four), central trauma (in four), kernicterus (in two), multiple sclerosis (in one), cytomegalovirus encephalitis (in one), meningovascular syphilis (in one), and migraine (in one). The latency from insult to symptom onset ranged from days (trauma) to 18 years (kernicterus), with a mean of 3 years. Nine patients had PNKD, two had PKD, five had mixed PKD/PNKD, and one had PHD. Hemidystonia was the most common expression of the paroxysmal movement disorder, present in 11 patients. Both of the patients with PKD had symptom durations of <5 minutes. Symptom duration ranged from 10 seconds to 15 days for PNKD and from 5 minutes to 45 minutes for mixed PKD/PNKD. There were no uniformly effective therapies, but anticonvulsant drugs, clonazepam, and botulinum toxin injections were the most beneficial. Awareness of the variable phenomenology and the spectrum of causes associated with secondary PxD will allow for more timely diagnosis and early intervention.     

Childhood paroxysmal kinesigenic dyskinesia: report of seven cases with onset at an early age

We report on seven children who developed abnormal involuntary movements as early as 1.5 years after unremarkable term births. The paroxysmal episodes of abnormal movements were typically precipitated by sudden, voluntary movements, or a startle. The clinical features in each case were consistent with the diagnosis of paroxysmal kinesigenic dyskinesia (PKD). The episodes of abnormal movements are described. EEG was obtained in all cases, and video/electroencephalography (VEEG) monitoring was performed to exclude the possibility of epilepsy in six patients. VEEG studies revealed multiple events consistent with PKD; no ictal epileptiform discharges were recorded. The apparent benign nature of the disorder, as well as treatment options with antiepileptic drugs, was discussed with the parents, and most chose no pharmacologic treatment. We discuss clinical characteristics of PKD, treatment with anticonvulsant therapy, and recent insights into its possible pathophysiology.     

Clinical features of paroxysmal kinesigenic dyskinesia: Report of 24 cases

Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and is characterized by involuntary, intermittent movements induced by sudden movements. Here, we describe 24 patients with PKD, whose clinical data were analyzed. The attacks of involuntary movements were all short lasting, and could involve extremities, trunk, neck, or face without alteration of consciousness. The motor function was normal between attacks, and in some cases, attacks could be evoked during examination. Most patients had normal electroencephalogram (EEG) and neuroimaging results, but 2 cases had abnormal EEGs, and another 2 cases had bilateral calcification of basal ganglion on brain computed tomography (CT) scans. Previous history of misdiagnosis was a predominant feature, while treatments based on misdiagnosis sometimes did lead to improvement. Here, we discuss the clinical characteristics, especially the abnormalities of investigations and misdiagnosis, and recent insights into the pathophysiology of PKD.     

Bilateral subthalamic nucleus lesion reverses L-dopa-induced motor fluctuations and facilitates dyskinetic movements in hemiparkinsonian rats

Glutamatergic overactivity might be involved in L-dopa-induced motor complications since glutamate antagonists reverse and prevent L-dopa-induced shortening in motor response duration in 6-hydroxydopamine-lesioned (6-OHDA) rats and improve L-dopa-induced dyskinesias in parkinsonian monkeys and in patients with Parkinson's disease (PD). An increase in the subthalamic nucleus (STN) glutamatergic activity is believed to contribute to the pathophysiology of PD. However, the role of STN activity in L-dopa-induced motor complications is not so clear. In this study, the effect of STN lesions on L-dopa-induced motor response complications was investigated in rats with a nigrostriatal pathway lesion induced by 6-OHDA. Animals were injected with 6-OHDA in the medial forebrain bundle and treated with L-dopa or saline for 22 days. On day 16, animals were randomly distributed in groups that underwent surgery in the STN ipsilateral or contralateral to 6-OHDA lesion, or bilateral. Rotational behavior was measured on days 1, 15, and 22. Attenuation of STN activity by contralateral and bilateral, but not ipsilateral, STN lesion reversed the shortening in motor response duration induced by L-dopa. L-dopa administration, but not saline, induced prominent dyskinesias in 6-OHDA-lesioned rats with additional bilateral STN lesions. The results indicate that bilateral lesions of STN potentiate the duration of L-dopa-induced motor response and facilitate chronic L-dopa-induced abnormal involuntary movements in 6-OHDA-lesioned rats. The characteristics of the abnormal involuntary movements observed in these animals are similar to L-dopa-induced dyskinesias in parkinsonian patients and might be useful as an experimental model for the study of L-dopa-induced dyskinesia.     

Paroxysmal kinesigenic dyskinesias

The paroxysmal dyskinesias (PxDs) are involuntary, intermittent movement disorders manifested by dystonia, chorea, athetosis, ballismus or any combination of these hyperkinetic disorders. Paroxysmal kinesigenic dyskinesia (PKD), one of the four main types of PxD, involves sudden attacks of dyskinesias induced by voluntary movements. PKD most commonly occurs sporadically or as an autosomal-dominant familial trait with variable penetrance. Many causes of secondary PKD are being recognized. The exact pathophysiology of the PxDs awaits further elucidation, although basal ganglia dysfunction appears to play a major role. Although the precise gene remains unknown, genetic linkage studies have isolated loci on chromosome 16, which colocalizes with the locus for familial infantile convulsions and paroxysmal choreoathetosis in some studies. The episodic nature of PKD and its relationship with other episodic diseases, such as epilepsy, migraine, and episodic ataxia, suggests channelopathy as a possible underlying etiology. PKD may remit spontaneously, but it also responds well to anticonvulsants as well as some other agents.     

Idiopathic paroxysmal kinesigenic dyskinesia in Malaysia,a multi-racial Southeast Asian country

Paroxysmal kinesigenic dyskinesia is a rare disorder, and there are few reports of Asian patients with this condition. We reviewed the clinical features of all patients with idiopathic paroxysmal kinesigenic dyskinesia (PKD) seen at a major neurological centre in Malaysia. The charts of 11 patients with idiopathic PKD seen between 1995 and 2008 were reviewed retrospectively. The male:female ratio was 9:2. Ten patients were of Chinese ethnicity, and one was Malay. Three patients (from two families) had a family history of PKD. The involuntary movement was dystonia in 73% of patients. In one patient, attacks were precipitated by vestibular stimulation. One patient had generalized epilepsy. Another patient who did not have epilepsy demonstrated epileptiform discharges. Only slightly over one-quarter of patients had a positive family history. Males, and people of Chinese ancestry, seem to be affected more frequently by PKD in certain Asian populations.