Faculty of Veterinary Medicine, Institute of Pharmacology, Pharmacy and Toxicology, University of Leipzig , Leipzig , Germany.
Department of Veterinary Medicine, Institute of Pharmacology and Toxicology, Free University Berlin , Berlin , Germany.
Front Vet Sci. 2015 Nov 30;2:65. doi: 10.3389/fvets.2015.00065. eCollection 2015.
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e., dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans and summarizes similar hereditary movement disorders reported in domestic animals.
肌张力障碍定义为一种以不随意持续或间歇性肌肉收缩为特征的神经系统综合征,导致扭曲、常为重复性运动和姿势。发作性运动障碍是一种发作性运动障碍,包括意识个体中的肌张力障碍、舞蹈病、手足徐动症和投掷症。几十年来的研究增强了对人类肌张力障碍和与肌张力障碍相关的运动障碍的病因的理解,但病理生理学仍然知之甚少。遗传性肌张力障碍和阵发性运动障碍在作为基础肌张力障碍研究的动物模型的啮齿动物中自发发生,这已有充分的记录。几种在狗、马和牛中描述的多动性运动障碍与这些人类运动障碍具有相似性。尽管肌张力障碍被认为是人类中第三常见的运动障碍,但由于病因和临床表现的异质性,它经常被误诊。由于这些疾病在兽医实践中知之甚少,因此它们在兽医医学中的患病率可能被低估。为了引起对这些运动障碍的关注,即与肌张力障碍相关的肌张力障碍和阵发性运动障碍,并提高对转化研究的兴趣,本综述简要概述了关于人类肌张力障碍/阵发性运动障碍的当前文献,并总结了在家畜中报道的类似遗传性运动障碍。