Grabli D, Auré K, Roze E
Pôle des maladies du système nerveux, fédération de neurologie, groupe hospitalier Pitié-Salpêtrière, AP-HP, 75013 Paris, France.
Rev Neurol (Paris). 2011 Feb;167(2):123-34. doi: 10.1016/j.neurol.2010.07.022. Epub 2010 Nov 17.
Movement disorders, especially dystonia, are a frequent manifestation of neurometabolic diseases. Proper characterization and classification of movement disorders is crucial but may be challenging in this setting. The diagnostic work-up should be focused first on treatable disease. Mixed movement disorders, marked orofacial involvement and associated neurological and extra-neurological features should prompt the clinician to consider the possibility of an underlying neurometabolic disorder. The diagnostic approach is based on the abrupt, paroxysmal or insidious nature of onset of the movement disorders, the clinical picture including neurological and systemic signs and symptoms, and the presence or absence of abnormalities on the brain MRI. In addition to specific treatment for the metabolic disease, when available, symptomatic treatment of the movement disorders can be proposed, remembering that these patients are particularly vulnerability to iatrogenesis.
运动障碍，尤其是肌张力障碍，是神经代谢疾病的常见表现。对运动障碍进行恰当的特征描述和分类至关重要，但在这种情况下可能具有挑战性。诊断检查应首先关注可治疗的疾病。混合性运动障碍、明显的口面部受累以及相关的神经和神经外特征应促使临床医生考虑潜在神经代谢障碍的可能性。诊断方法基于运动障碍发作的突然性、阵发性或隐匿性、包括神经和全身体征及症状的临床表现以及脑部MRI是否存在异常。除了对代谢疾病进行特异性治疗（如有可用的治疗方法）外，还可以对运动障碍进行对症治疗，要记住这些患者特别容易发生医源性疾病。
