Vidailhet Marie, Grabli David
Neurologie et Institut du Cerveau et de la Moelle Epinière CRICM UPMC/INSERM UMR_S975 CNRS UMR7225, GH Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital--75013 Paris.
Bull Acad Natl Med. 2011 Apr-May;195(4-5):921-34; discussion 934.
Dystonia is defined by the occurrence of abnormal twisting movements and posture, and may be generalized or focal. Many subtypes of dystonias have been described, including monogenic forms (eg. DYT1 and DYT6), secondary dystonias related to metabolic disorders, forms due to brain lesions (including post-anoxic brain injury), and tardive dystonia. Dystonia may also be associated with myoclonus (myoclonus-dystonia, DYT11) or parkinsonism (rapid-onset dystonia parkinsonism DYT1). Paroxystic dystonias are a subgroup of paroxysmal dyskinesias. Diagnosis is based mainly on clinical features, age at onset, outcome, associated neurological signs, and brain MRI. Until recently, basal ganglia dysfunction and alterations of the sensory-motor network with maladaptive cortical plasticity were the core pathophysiological features of dystonia. Cerebellar and cerebello-thalamic anatomic-functional abnormalities may also play a role. The main objectives of this review are to highlight the principal characteristics of dystonias and to provide an overview of known culprit genes and environmental factors. Current pathophysiological knowledge, including anatomic-functional abnormalities, is summarized.
肌张力障碍的定义是出现异常的扭转运动和姿势，可分为全身性或局灶性。肌张力障碍有许多亚型，包括单基因形式（如DYT1和DYT6）、与代谢紊乱相关的继发性肌张力障碍、由脑损伤（包括缺氧后脑损伤）引起的形式以及迟发性肌张力障碍。肌张力障碍也可能与肌阵挛（肌阵挛性肌张力障碍，DYT11）或帕金森综合征（快速起病的肌张力障碍帕金森综合征，DYT1）相关。阵发性肌张力障碍是阵发性运动障碍的一个亚组。诊断主要基于临床特征、发病年龄、病情转归、相关神经体征和脑部磁共振成像（MRI）。直到最近，基底神经节功能障碍以及感觉运动网络改变伴适应性不良的皮质可塑性仍是肌张力障碍的核心病理生理特征。小脑和小脑丘脑的解剖功能异常也可能起作用。本综述的主要目的是强调肌张力障碍的主要特征，并概述已知的致病基因和环境因素。总结了当前的病理生理知识，包括解剖功能异常。
