肌张力障碍诊断与治疗研究进展

自1911年Oppenheim首次提出“肌张力障碍”的命名至今已有100多年历史,临床沿用的肌张力障碍定义陈旧,临床分类不甚具体,2013年Albanese等提出肌张力障碍的新定义和新分类,对指导肌张力障碍的诊断与治疗有很大帮助。近年国内外关于肌张力障碍的诊断与治疗取得新的进展和新的认识,本文拟就肌张力障碍的定义、临床分类、诊断与治疗研究进展进行概述。     

肌张力障碍

本文对肌张力障碍的流行病学、临床表现及治疗,特别是发病机理进行了综述。肌张力障碍是由于各种原因引起的脑内一些神经递质传导及代谢方面的障碍,使之直接的或间接的影响了神经递质的传导及代谢,增加了运动神经突触间的兴奋性,同时降低了突触间的抑制。     

颈部肌张力障碍肌肉疼痛的研究进展

颈部肌张力障碍是一种常见的局灶性肌张力障碍,主要临床表现为周期性头向一侧转动或前倾、后仰或固定于某一异常姿势.颈部肌张力障碍患者常有受累肌肉疼痛,疼痛症状严重影响患者生活质量和社会交往,而备受关注.然而目前关于颈部肌张力障碍肌肉疼痛的发病原因仍不明确,治疗方法也尚未形成一致意见.文中就近年来对颈部肌张力障碍肌肉疼痛的相...     

多巴反应性肌张力障碍临床分析

目的回顾性分析多巴反应性肌张力障碍患者的临床特点和治疗原则。方法选择2005年3月-2010年7月门诊或住院治疗且诊断明确的多巴反应性肌张力障碍患者,面对面采集临床资料并门诊或电话随访,对其性别、年龄、发病年龄、家族史、首发症状、就诊症状、诊断延误时间及治疗过程进行分析。结果共21例患者入组,男4例、女17例,平均发病年龄(7.19±3.40)岁,平均诊断延误时间(13.76±11.38)年。均以肢体肌张力障碍为首发症状,20例(95.24%)呈现晨轻暮重现象,6例(28.57%)伴帕金森样症状,2例(9.52%)伴痉挛性截瘫;经小剂量左旋多巴/多巴丝肼治疗后症状显著缓解。随访l 8例患者,仅1例治疗后仍遗留肢体残疾;3例失访。随访期间左旋多巴/多巴丝肼平均维持剂量(175.35±113.51)mg/d,3例患者辅助应用盐酸苯海索(4～6 mg/d)治疗。结论多巴反应性肌张力障碍患者多于儿童期以肢体肌张力障碍发病,小剂量左旋多巴/多巴丝肼治疗效果显著。因此,对于儿童肌张力障碍或青年帕金森样症状患者应行小剂量左旋多巴/多巴丝肼诊断性治疗,以降低多巴反应性肌张力障碍的误诊率。     

多巴反应性肌张力障碍临床分析

目的回顾性分析多巴反应性肌张力障碍患者的临床特点和治疗原则。方法选择2005年3月-2010年7月门诊或住院治疗且诊断明确的多巴反应性肌张力障碍患者,面对面采集临床资料并门诊或电话随访,对其性别、年龄、发病年龄、家族史、首发症状、就诊症状、诊断延误时间及治疗过程进行分析。结果共21例患者人组,男4例、女17例,平均发病年龄（7．19±3．40）岁,平均诊断延误时间（13．76±11.38）年。均以肢体肌张力障碍为首发症状,20例（95．24％）呈现晨轻暮重现象,6例（28．57％）伴帕金森样症状,2例（9．52％）伴痉挛性截瘫;经小剂量左旋多巴,多巴丝肼治疗后症状显著缓解。随访18例患者,仅1例治疗后仍遗留肢体残疾;3例失访。随访期间左旋多巴／多巴丝肼平均维持剂量（175．35±113．51）mg／d,3例患者辅助应用盐酸苯海索（4.6mg／d）治疗。结论多巴反应性肌张力障碍患者多于儿童期以肢体肌张力障碍发病,小剂量左旋多巴／多巴丝肼治疗效果显著。因此,对于儿童肌张力障碍或青年帕金森样症状患者应行小剂量左旋多巴,多巴丝肼诊断性治疗,以降低多巴反应性肌张力障碍的误诊率。     

肌张力障碍

肌张力障碍袁浩龙，周蓓蓓１定义与分类［１，２］１９８４年，由肌张力障碍（ＤＴ）基础医学科学顾问委员会提出的定义为：ＤＴ是一种综合征，特点有持久性肌收缩，常引起扭转和重复运动或异常姿态。ＤＴ可依据发病年龄、病因或分布位置来分类。按发病年龄分：（１）＜１...     

对《肌张力障碍诊断与治疗指南》的解读

肌张力障碍是发病率仅次于帕金森病的运动障碍性疾病,长期以来由于病因复杂、机制不清且缺乏有效治疗方法等原因,一直为人们所忽视.近十年来,由于遗传基因的研究进展,加之出现了一些有效的治疗方法,肌张力障碍开始成为基础与临床研究的热点.     

颈肌张力障碍的发病机理和临床特点

颈肌张力障碍是成人局限性肌张力障碍中最常见的一种类型。本文就其流行病学、临床表现、发病机理、诊断分型的国外研究情况作一简要综述。     

肌张力障碍

肌张力障碍(dystonia)也称肌张力不全或肌紧张异常。1911年Oppenheim首先引入变形性肌张力障碍(dystonaa musculorum deformans)一词以强调其肌张力变化的特征；但人们也认识到该疾病尚有异常运动，姿势扭转等特点，并可能是一种遗传性器质性病变，故Flatan与Sterling提议称其为进行性扭转痉挛(prgressive torsion spasm)。     

肌张力障碍持续状态的诊疗进展

肌张力障碍持续状态是一种罕见的运动障碍疾病急症,其临床特征包括高热、自主神经功能紊乱、吞咽障碍和呼吸衰竭,多预后不良.需要紧急评估,并根据患者的临床特点和并发症进行干预.目前临床上对肌张力障碍持续状态的认识不足,文中针对肌张力障碍持续状态的诊治研究进行综述.     

Segmental dystonia following electrocution in childhood

Abstract Electrical injuries to the extremities may result in a range of neurologic manifestations, which include movement disorders such as parkinsonism, segmental myoclonus, choreoathetosis, tremors and dystonia. A 66-year-old man developed segmental dystonia of the right upper extremity at the age of nine, three years after he accidentally held a live 240-V electrical wire in his right hand. MRI brain and cervical cord were normal. We discuss this unusual cause of secondary dystonia and review the literature.     

Visual compensation in cervical dystonia

Introduction: Visual-spatial processing can be affected in people with cervical dystonia (CD). These impairments have almost exclusively been observed in laboratory studies, but the impact of visuo-spatial impairments on daily activities is unclear. Here, we investigated how people living with CD visually explore the environment.

Method: 21 participants (10 patients and 11 controls) walked a designated course searching for targets while their eye movements were tracked by the means of eye tracking glasses. In addition, all participants performed an extensive battery of spatial neglect tests.

Results: People with CD visually compensated for their lateral head position. That is, they made more eye movements towards the side opposite their lateral head position. No evidence for or against spatial asymmetries were detected in a range of behavioral measures (target detection, standard neglect battery tests) on a group level. Yet, single patients showed a neglect-like pattern. One patient with a right torticollis failed to detect most left-sided targets when walking.

Conclusion: In general, participants seem to adequately compensate for the deviated head posture when judging spatial stimuli. However, the insufficient spatial exploration in one patient with a valid driving license should raise awareness in clinicians to potential visuo-spatial problems in people living with CD. An interesting question arising from our findings is whether people with CD and marked visuo-spatial deficits would benefit from scanning training, as is employed in stroke rehabilitation.     

Endophenotyping in idiopathic adult onset cervical dystonia

Objective

Idiopathic adult onset cervical dystonia (IAOCD) is considered to be a partially penetrant autosomal dominant genetic condition. Dystonia may result from genetic and environmental factors. In this view, part of the physiology should be an endophenotype stemming from the genetic background. We assessed the most discriminative test to separate patients with IAOCD and healthy controls for further endophenotyping in non-affected 1st degree relatives.

Episodic cervical dystonia associated with gastro-oesophageal reflux. A case of adult-onset Sandifer syndrome

Sandifer syndrome is a dystonic movement disorder described in children with severe gastro-oesophageal reflux. We now report a patient who had the features of Sandifer syndrome first developing in adult life. Onset of dystonic episodes followed closely the occurrence of a Bell's palsy, while symptoms of peptic oesophagitis had been present for several months beforehand. Successful symptomatic treatment of gastro-oesophageal reflux was accompanied by cessation of the dystonic episodes. Possible pathophysiological mechanisms of the abnormal movements in Sandifer syndrome are discussed.     

Interactions between voluntary head control and neck proprioceptive reflexes in cervical dystonia

BackgroundTo investigate deficiencies in mechanisms of sensorimotor processing and reflexive–voluntary interactions leading to the impaired head position control in primary cervical dystonia.MethodsThirteen patients and 23 healthy controls were subjected to transient, low amplitude, low velocity head-on-trunk, trunk-under-head and whole-body rotations in the horizontal plane. With the instruction not to resist the imposed displacements, resistance to horizontal neck deflections was evaluated.ResultsPatients exhibited a torque offset (bias) in the direction of torticollis before stimulus application. While controls reduced and occasionally eliminated completely the initial resistance to head-to-trunk rotations, torque in patients increased throughout displacements. Change of resistance relative to baseline in patients was, however, symmetrical, i.e. independent of torticollis direction. Spontaneous torque fluctuations were significantly larger in patients. Strong correlations existed among these abnormal findings.ConclusionsPatients' ability to manipulate normal postural reactions to head-trunk rotations is impaired. The deficit is bilateral and correlates with the degree of abnormal posture. The present study extends previous work on reflexive–voluntary interactions and provides evidence that malfunctioning proprioceptive feedback may contribute to the pathophysiology of cervical dystonia.     

多巴反应性肌张力障碍的临床特点

目的探讨多巴反应性肌张力障碍（DRD）的病因、临床特点及治疗方法，加强对该病的认识。方法对13例确诊的DRD患者的临床资料进行回顾性分析。结果本组发病年龄为（14．69±4．01）岁（10～27岁），病程6月～16年。最常见的临床表现为步态、姿势异常及震颤，症状日间波动明显，容易误诊为脑瘫、帕金森病、神经症等。服用小剂量多巴制剂有显著而持久的疗效。结论DRD患者具有症状多样及日间波动的特点。对儿童及青壮年本病患者可首选小剂量左旋多巴试验性治疗。     

多巴反应性肌张力障碍七例报告

目的加强对多巴反应性肌张力障碍的认识和重视。方法描述我院收治的来自５个家庭７例患者的临床表现、辅助检查及治疗情况。结果男１例,女６例,其中４例为２对姐妹。发病年龄３个月至８岁,平均３１岁,治疗前平均病程１２３年,均表现为缓慢起病的四肢僵硬、活动困难,部分患者伴有肢体震颤、构音不清、吞咽困难,症状均呈晨轻暮重。体检：均有四肢肌张力铅管样或齿轮样增高,多以左侧明显,双下肢腱反射活跃至亢进,部分患者病理征阳性,病程长者可有脊柱和足部畸形。辅助检查除部分患者血清酶增高外,头颅ＣＴ、ＭＲＩ、单光子发射断层扫描、神经电生理检查均正常。小剂量多巴制剂对７例患者均有明显疗效,左旋多巴平均剂量为８４８ｍｇ／ｄ（美多巴或帕金宁控释片）,使用最长者已达１５年,无需增大剂量。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。