肌张力障碍相关基因及临床特征

肌张力障碍是由主动肌和拮抗肌的不协调收缩或过度收缩引起的以异常姿势和动作为特征的常见运动障碍性疾病,发病机制复杂,临床表现多样.文章着重论述原发性肌张力障碍、肌张力障碍叠加综合征和遗传性肌张力障碍的致病基因、临床特征及遗传学研究进展.     

多巴反应性肌张力障碍三例分析

肌张力障碍是一种以肌肉收缩不协调或过度收缩引起的运动障碍综合征,为锥体外系疾病,具有不自主性和持续性的特点。肌张力障碍症状繁多,临床表现多变,分类复杂,病因不明,其中很大一部分病人具有遗传特性,诊断为原发性肌张力障碍。而在儿童期起病的原发性肌张力障碍中,有10%左右的属于多巴反应性肌张力障碍（DDR）。该病常以肌张力障碍为首发症状,大多数伴有帕金森综合征,有显著的晨轻暮重特点,为常染色体显性遗传病,     

肌张力障碍的治疗

肌张力障碍(dystonia)是一组身体骨骼肌的主动肌和拮抗肌不协调，并且间歇持续收缩造成重复的不自主运动和异常扭转姿势的症状群，也称肌紧张异常或肌张力障碍综合征。成人局限性肌张力障碍发病率为30人／10万人口，全身性肌张力障碍的发病率大约为0．3～25人／1000万人口，     

多巴反应性肌张力障碍

肌张力障碍是指因持续性肌肉收缩而引起的肢体扭曲、重复运动或姿势异常综合征。多巴反应性肌张力障碍（dopa-responsive dystonia，DRD）以应用左旋多巴有效为特征，是一种较为少见的遗传性锥体外系疾病。因DRD发病率低，临床表现多种多样，常易误诊为脑瘫、脑炎、帕金森病等，故临床医师有必要提高对本病的认识，减少误诊，从而避免因长期肌张力障碍所致的畸形，减轻患的痛苦。     

丘脑底核深部电极植入手术治疗扭转痉挛的观察与护理

扭转痉挛是肌张力障碍最严重的一种类型,是神经系统少见病.它是以一种持续肌肉收缩为特征的异常运动,频繁引起扭转,重复运动或异常姿势,患病大约为6.6/10万人口,我国大约有7-8万患者.肌张力障碍是一种神经性运动障碍,表现特征为不随意肌     

丘脑底核深部电极植入手术治疗扭转痉挛的观察与护理

扭转痉挛是肌张力障碍最严重的一种类型,是神经系统少见病.它是以一种持续肌肉收缩为特征的异常运动,频繁引起扭转,重复运动或异常姿势,患病大约为6.6/10万人口,我国大约有7-8万患者.肌张力障碍是一种神经性运动障碍,     

原发性肌张力障碍的基因诊断研究进展

原发性肌张力障碍（primary torsion dystonia ,PTD）是一种主动肌与拮抗肌收缩不协调或过度收缩引起的以异常姿势和动作为特征的锥体外系疾病。多数常散发,少数有家族史,其病因可能与遗传、环境等因素有关。随着分子遗传学的发展,遗传因素在PTD发病机制中的作用愈来愈受到重视。已确定的遗传特征有常染色体显性遗传（DYT1／TOR1A ;DYT6／THAP1;DYT4／TUBB4a;DYT7;DYT13;DYT21;DYT23／CIZ1;DYT24／ANO3;DYT25／GNAL ）和隐性遗传（DYT2;DYT17）,其他一些迟发、散发的 PTD基因分型仍未明确。在肌张力障碍患者中,约75％为 PTD［1］。原发性全身性肌张力障碍往往在儿童期起病,通常发生在5～10岁。发作从小腿开始,然后扩散到肢体的其他部位;而原发性局限性肌张力障碍常累及面部,喉部及颈部,往往持续保持局灶性或节段性。以成人起病的原发性局限性肌张力障碍中,有15％～30％可发展至肢体的其他部位［2‐3 ］。有证据表明,不光是家族性肌张力障碍具有一定遗传基础,极可能很多明显散发性的病例也有遗传基础［4］,现就PTD的基因诊断研究进展综述如下。     

原发性肌张力障碍发病机制的研究进展

原发性肌张力障碍(primary dystonia)是一种没有其他可能的获得性病因的运动障碍疾病,特点为不自主、持续性肌肉收缩,引起扭曲和重复动作或异常姿势。近年来随着经颅磁刺激、脑深部电刺激等技术的运用,原发性肌张力障碍的病理生理机制研究取得许多进展。本文对原发性肌张力障碍发病机制,特别是突触重塑异常的研究进展进行综述。     

多巴胺反应性肌张力障碍研究进展

多巴胺反应性肌张力障碍,又称Segawa氏病,是肌张力障碍的一种特殊类型。此类肌张力障碍具有一定的遗传学特点,对小剂量多巴胺治疗的良好反应性为其明显特征。然而,目前临床上对此病的认识仍有诸多不足,不少患者被按照其他类型的肌张力障碍进行治疗,造成延误诊治及医疗资源的浪费。该文就多巴胺反应性肌张力障碍的病因、病理、机制、诊断及治疗等方面的研究进展进行综述。     

肌张力障碍基因缺陷已被确定

自1982年以来,一些科学家就已开始搜集变应性肌张力障碍早期发作病人的家族史资料。该疾病是一种能引起肌肉收缩、扭转、或有时可出现不随意性肌反射的致残性疾病。研究人员还从这些家族成员中采集血样,并对他们的DNA进行探查,以寻找可揭示肌张力障碍病因的遗传线索。变应性肌张力障碍不同于神经肌疾病(诸如帕金森氏病或亨廷顿氏舞蹈病),它很难在体内进行追踪。目前,哈佛大学遗传学家Laurie J     

Cranial dystonia, blepharospasm and hemifacial spasm: clinical features and treatment, including the use of botulinum toxin.

Blepharospasm, the most frequent feature of cranial dystonia, and hemifacial spasm are two involuntary movement disorders that affect facial muscles. The cause of blepharospasm and other forms of cranial dystonia is not known. Hemifacial spasm is usually due to compression of the seventh cranial nerve at its exit from the brain stem. Cranial dystonia may result in severe disability. Hemifacial spasm tends to be much less disabling but may cause considerable distress and embarrassment. Patients affected with these disorders are often mistakenly considered to have psychiatric problems. Although the two disorders are quite distinct pathophysiologically, therapy with botulinum toxin has proven very effective in both. We review the clinical features, proposed pathophysiologic features, differential diagnosis and treatment, including the use of botulinum toxin, of cranial dystonia and hemifacial spasm.     

多巴反应性肌张力障碍4例报告

目的分析多巴反应性肌张力障碍（DRD）的临床特点。方法回顾近2年诊治的4例DRD患儿之临床表现、辅助检查与治疗。结果本组4例为2对姐妹。发病年龄9～14岁,平均12.5岁,治疗前平均病程3.25年,均表现为缓慢起病的四肢僵硬、姿势异常及震颤、构音不清、吞咽困难,症状均日间波动明显。服用小剂量美多巴制剂后2周均明显好转,随访2年基本恢复正常。结论本病是一种较为罕见的遗传性运动障碍疾病。临床诊断不难,小剂量多巴制剂有显著持续疗效,早期治疗效果好。     

帕金森病运动并发症治疗进展

帕金森病(Parkinson’s disease,PD)是一种进行性神经元变性疾病。随着病程进展,左旋多巴的疗效逐渐减退,最终出现多种类型运动并发症,主要包括剂末现象、异动症、步态冻结、肌张力障碍;特别是疾病进展期的患者出现异动症及肌张力障碍等并发症时,临床治疗难度大。病程6~9年的PD患者中,41%~70%的患者存在运动并发症。本文通过广泛查阅国内外文献,综述目前处理PD运动并发症的策略,为临床医师认识以及处理PD运动并发症提供参考。     

Prognosis of Japanese encephalitis patients with dystonia compared to those with parkinsonian features only

Objectives: A number of movement disorders have been reported in Japanese encephalitis (JE). The prognostic significance of these movement disorders, however, has not been evaluated. The present study reports the prognostic significance of parkinsonian features and dystonia in JE. Patients and methods: During 1992 and 1998, 50 JE patients were managed; 35 of them developed movement disorders (the study group). The diagnosis of JE was based on clinical, radiological, and serological criteria. Parkinsonian features were rated by the unified Parkinson''s disease rating scale and dystonia by the dystonia rating scale. The patients with parkinsonian features only were classified into group I and those with additional dystonia or dyskinesia into group II. The outcome was defined at the end of three months into poor, partial, and complete recovery depending on how the patients coped with daily living activities. Results: The patients'' ages ranged from 2 to 64 years and 11 were females. The admission mean Glasgow coma scale score was 6.9 (range 4–13). The movement disorders were noted after 1–4 weeks of ictus. There were 16 patients in group I and 19 in group II. The parkinsonian features were more pronounced in group II than in group I. At three months of follow up, fewer patients had parkinsonian features in group I than group II. Hypophonia, however, persisted in 12 patients in group I and 16 in group II until the three month follow up. In group II, the mean dystonia score was 3.2 which regressed to 1.8 at three months. Tremor was present in five patients in groups I and eight in group II. Cranial computed tomography was abnormal in six and magnetic resonance imaging abnormal in 15 patients in group I and in nine and 12 patients respectively in group II. The thalamus was most frequently involved (11 patients in each group), basal ganglia (four in group I and six in group II), and midbrain (six in group I and one in group II). Group II patients had poorer recovery compared with group I. In group I, at the end of three months functional recovery was complete in 10, partial in two, and poor in three patients. In group II, four patients had complete, seven partial, and eight poor recovery. Conclusion: JE results in a transient form of parkinsonian syndrome, which is associated with a lower frequency of tremor and prominent hypophonia. The presence of dystonia suggests more severe illness and poorer prognosis.     

6: Movement disorders II: the hyperkinetic disorders

Involuntary movements or hyperkinesias are classified into syndromes of chorea, ballism, tremor, dystonia, myoclonus and tics. The hyperkinesias are caused by disturbances in the circuitry connecting the cerebral cortex, thalamus, basal ganglia and cerebellum. Drugs are a common cause of movement disorders. The aim of management is to characterise the movement disorder, identify and treat the cause or institute symptomatic treatment. The genetic basis of many movement disorders is increasingly recognised. Where there are potential implications for family members, accurate diagnosis and counselling are particularly important.     

Deep brain stimulation in the treatment of secondary dystonia

Background Dystonia is one of the most challenging movement disorders to treat. Medications and surgeries are the two methods to control dystonic symptoms. For patients with dystonia in whom symptoms are inadequately controlled with pharmacologic measures, the use of deep brain stimulation （DBS） can improve symptoms and enhance functional capacity. The best candidate for DBS is believed to be primary generalized dystonia, especially the DYT-1 type. Here, we report 9 cases of secondary dystonia to explore the feasibility, indications and complications of DBS in the treatment of secondary dystonia. Methods From July 2003 to June 2006, nine patients with secondary dystonia underwent surgery at Beijing Tiantan Hospital. Among them, 2 were diagnosed as having tardive dystonia, 1 had posttraumatic dystonia, 3 had a history of perinatal anoxia, 1 had neonatal pathologic jaundice, and 2 had no exact contributory history; MRI showed bilateral lentiform nuclei degeneration in one patient. Six patients underwent bilateral subthalamic nucleus （STN）-DBS, two underwent unilateral STN-DBS, the other underwent left STN and fight globus pallidus internus（GPi）-DBS. Results With intraoperative microelectrode recording, the targeted nucleus was accurately localized. Tentative stimulation could decrease muscle tension to the same extent, but twisting was not obviously improved. Follow-up for 3 months to 3 years showed satisfactory results in 3 patients with tardive dystonia and posttraumatic dystonia and that Burke-Fahn-Marsden Dystonia Scale （BFMS） decreased by more than 90%. The improvement of symptoms was progressive along with time. The other 6 patients had slight to moderate improvement. None of them had severe surgery-related complications. One had lead fracture 16 months after surgery and the lead was then evacuated. Conclusions DBS could be an ideal treatment for patients with tardive and posttraumatic dystonia. For patients with perinatal anoxia and diffuse impairment in the basal ganglia, DBS seemed not to be a good choice. STN could be an ideal target. Intraoperative microelectrode recording and mild amelioration of muscle tension are indicators of correct target location. No severe complications occurred.     

Deep brain stimulation in the treatment of tardive dystonia

Dystonia refers to a clinical syndrome in which sustained involuntary muscle contractions result in twisting and repetitive movements, or abnormal postures. Secondary dystonia is associated with acquired or exogenous causes, hereditary neurologic syndromes or neurodegenerative disorders. Tardive dystonia is a special type of secondary dystonia due to exposure to certain medicines such as neuroleptics, with a chronic and persistent extrapyramidal symptoms. Dystonia is a severely disabling and …     

Progress in the Diagnosis and Management of Chorea-acanthocytosis

Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis syndrome, characterized by the presence of acanthocytes and neurological disorders.It is thought to be caused by VPS13A mutations. Characteristic movement disorders in ChAc is choreiform movements affecting both trunk and extremities and prominent orolingual dyskinesia is pathognomonic. Acanthocytosis in peripheral blood smear, elevated serum creatine kinase and atrophy of heads of caudate nuclei and dilation of the anterior horn of the lateral ventricles in magnetic resonance imaging could assist the diagnosis of ChAc. Botulinum toxin injection is a possible treatment for the typical orofacial dystonia. Deep brain stimulation is a novel surgical treatment modality. Most cases chose globus pallidus internus as target. Patients with dystonia as a major manifestation will benefit more from high-frequency stimulation and those with major findings of chorea and dysarthria are suitable for low-frequency stimulation. More evidence of long-term outcomes is warranted.     

Neuroacanthocytosis: a rare inherited movement disorder

The chorea-acanthocytosis syndrome (CHAC) is a rare disorder beginning in late adolescent or adult life in association with acanthocytosis, a normal lipid profile and characterized by progressive neurological disease. The inheritance is usually autosomal recessive, although apparent sporadic and autosomal dominant instances are also known. We report here a young man who presented with choreo-athetoid movement, dystonia, tics, symmetrical axonal polyneuropathy with normal cognitive function. The subsequent peripheral blood film reveals acanthocytes > 5%. Diagnosis of neuroacanthocytosis was made.