肌张力障碍 - 异质临床和治疗景观

肌张力障碍是一种鲜为人知的综合征,估计会影响英国至少70,000人。对于dystonia意识周(2018年5月5日至5月13日),我们询问了Ritesh Ramdhani博士,编辑委员会成员Journal of Clinical Movement Disorders, to tell us more about dystonia.

肌张力障碍是一种非自愿性收缩的综合征,在一个或多个身体区域中产生具有可预测的刻板运动的异常姿势。动作的速度可能会有所不同,具有特征性的方向性,并且可以通过自愿运动来恶化,也可以通过特定的动作(例如写作,说话或步行)触发。一种感官技巧或预期的动作可以降低运动的严重性可能是一个显着特征。肌张力障碍在睡眠期间也有所改善,并因压力或焦虑而加剧。

分类肌张力障碍 - 年龄和病因问题

肌张力障碍的分类仍然值得争论。从历史上看,它已被归类为初级或次要起源,而早期的发作被认为年轻26岁。原发性肌张力障碍是一种临床诊断,没有大脑成像和实验室研究发现的可识别外部原因。红旗症状,例如存在其他神经系统症状,结合肌张力障碍或半肌动症(影响身体一侧的肌张力障碍)暗示了次要或获得的原因,例如造成缺乏,感染,创伤,中风或暴露于药物的结构性脑损伤(例如,多巴胺阻断药物)。此外,肌张力障碍可以表现为神经退行性疾病(例如帕金森氏病或非典型帕金森主义,威尔逊氏病或亨廷顿氏病)神经退行性疾病的一部分。

Primary dystonia: from early to late

至少有12种与肌张力障碍加综合症有关的基因 - 肌张力障碍以及其他运动障碍,例如帕金森氏症,震颤和肌阵挛。

Early onset primary dystonia usually starts in a leg or arm and spreads over time to the trunk and other limbs. It is inherited in an autosomal dominant nature with only some of those who have the mutation developing the disorder. Generalized dystonia can be very disabling for patients by limiting their mobility and independence.

The first dystonia gene (DYT1) was discovered in 1997 with an average age of 13 years that causes a generalized dystonia. Since then, there have been 28 genetically based dystonias discovered. While most of these inherited primary dystonia produce purely isolated dystonia, there are at least 12 genes associated with dystonia plus syndromes—combination of dystonia plus other movement disorders such as parkinsonism, tremor, and myoclonus.

晚期发作肌张力障碍(通常超过26岁)通常是焦点 - 影响与学习或熟练任务有关的特定身体区域的某些肌肉。局灶性肌张力障碍可能是特定任务的,在以下情况下是某些志愿运动,作家的抽筋,音乐家的手或递减肌张力障碍,打字员dystonia,高尔夫球手的YIPS或喉头肌张力障碍。在没有自愿运动触发的情况下,非任务特异性肌张力障碍的特征是肌张力障碍。例如,由于过度的宫颈肌肉激活和骨痉挛,骨骼或颈部扭曲,它们是眼睑肌肉的收缩,导致过度眨眼或紧密闭合。

宫颈肌张力障碍是最普遍的局灶性肌张力障碍,而作家的抽筋最常见于特定于任务的肌张力障碍。值得注意的是,在腿部和脚上也可以看到晚期局灶性肌张力障碍是特定于任务的肌张力障碍。但是,由于这种非典型的发病位置,必须考虑将其作为帕金森氏病的早期迹象。

Treatment approaches

Therapeutic treatments for dystonia remain tailored towards symptomatic alleviation. There have been few randomized controlled trials in dystonia. However, there is Class I evidence that trihexyphenidyl is especially efficacious for generalized and segmental dystonia in the pediatric population. Other oral medications that could provide benefit are levodopa, clonazepam, muscle relaxants (i.e., baclofen, tizandine), and tetrabenazine.

Key techniques that can augment medical treatment of dystonia include sensory training, use of braces or splints in certain circumstances, repetitive exercises of affecting limb(s), and adaptive movement training.

肉毒杆菌毒素注射已成为局灶性肌张力障碍的有效治疗剂。它通过在当地注射部位暂时引起肌肉瘫痪而起作用,其在三个月内磨损了,需要重复注射。它已获得FDA批准用于治疗骨痉挛和宫颈肌张力障碍,被认为是许多局灶性肌张力障碍的第一行治疗。

Stereotactic surgery, specifically Deep Brain Stimulation(DBS), has been shown to provide robust and sustained benefits for DYT1 dystonia and primary generalized dystonia. Therapy is engendered by using electrodes implanted into specific regions of the brain that deliver electrical impulses from small pulse generators sitting in a patient’s chest. Other dystonias shown to benefit from DBS include severe cervical dystonia, tardive dystonia (related to exposure to dopamine blocking drugs) and myoclonus-dystonia—a primary dystonia syndrome that can present in adolescence.

The role of physical and occupational therapy in the treatment algorithm of dystonia should not be understated. Key techniques that can augment medical treatment of dystonia include sensory training, use of braces or splints in certain circumstances, repetitive exercises of affecting limb(s), and adaptive movement training.

Dystonia is a clinically and genetically complex condition requiring that keen attention is paid to understanding when and where it manifests, how it progresses, and what other symptoms are also present. A multidisciplinary approach is the underpinning for both the diagnostic and treatment paradigms, which serve to restore a level of functionality and quality of life to those afflicted.

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