Department of Neurological Sciences, Rush University Medical Center, 1725 West Harrison Street, Chicago, IL 60612, United States.
Parkinsonism Relat Disord. 2018 Jan;46 Suppl 1:S66-S69. doi: 10.1016/j.parkreldis.2017.06.025. Epub 2017 Jun 30.
Dystonia is a rare disorder that has undergone extensive scientific investigation leading to a transformation of understanding over the past century.
This manuscript was prepared through a review of relevant literature for each topic.
Historically dystonia was considered the manifestation of psychiatric disorders. Subsequently, investigations have firmly established this as a neurological disorder. Though electrophysiological and imaging, dystonia is thought to arise from a loss inhibition of motor programs, defective sensorimotor integration and abnormal plasticity. The genetic studies in dystonia have revealed the hereditary nature of many forms of familial dystonia. Treatment of dystonia has focused primarily on botulinum toxin for focal and segmental dystonia and deep brain stimulation of the globus pallidus interna for generalized and medically refractory focal dystonia.
The progress in dystonia in the past century has revised the concepts of this disorder, increased knowledge of genetics and underlying pathophysiology, and provides new therapeutic targets. To promote future research the development of diagnostic criteria, biomarkers and validated rating scales for each form of dystonia is essential.
肌张力障碍是一种罕见的疾病，在过去一个世纪中，经过广泛的科学研究，人们对其认识发生了转变。
本文通过对每个主题的相关文献进行综述而撰写。
在历史上，肌张力障碍被认为是精神障碍的表现。随后的研究已经明确将其确定为一种神经系统疾病。通过电生理学和影像学研究，肌张力障碍被认为是由于运动程序的抑制丧失、感觉运动整合缺陷和异常的可塑性引起的。肌张力障碍的遗传学研究揭示了许多家族性肌张力障碍形式的遗传性。肌张力障碍的治疗主要集中在肉毒毒素治疗局灶性和节段性肌张力障碍，以及苍白球内深部脑刺激治疗全身性和药物难治性局灶性肌张力障碍。
过去一个世纪中肌张力障碍的研究进展改变了人们对这种疾病的概念，增加了对遗传学和潜在病理生理学的认识，并提供了新的治疗靶点。为了促进未来的研究，开发针对每种类型肌张力障碍的诊断标准、生物标志物和经过验证的评分量表至关重要。
