Boulloche J
Service de Pédiatrie, Hôpital Charles Nicolle, Rouen.
Rev Neurol (Paris). 1988;144(2):137-46.
A classification of child dystonias is proposed as a guide to etiological diagnosis. The analysis of symptoms and signs provides a distinction between dystonia and other involuntary movements: dystonia is a tonic involuntary movement which appears during voluntary activity as a slow and involuntary movement. Two groups of child dystonic syndromes can be distinguished: 1) dystonic syndromes where dystonia is the main neurologic abnormality; they result mainly from toxic and anoxic disorders and from torsion dystonia; 2) dystonic syndromes with associated dystonia and intellectual impairment; they are often familial neurometabolic disorders. Analysis of child dystonias show some common features: a long interval between the causative brain lesion and the onset of dystonia is possible, and may last several years. In neuro-metabolic disorders also dystonia appears after the first year of life, when psycho-motor impairment has already appeared. Etiologic investigations can provide a diagnosis and sometimes a treatment in several varieties of dystonia, e. g. L-Dopa in torsion dystonia, correction of metabolic disturbance in Wilson disease or glutaric aciduria. Genetic counselling should be provided.
本文提出了一种儿童肌张力障碍的分类方法，作为病因诊断的指南。对症状和体征的分析有助于区分肌张力障碍与其他不自主运动：肌张力障碍是一种强直性不自主运动，在自主活动时表现为缓慢的不自主运动。儿童肌张力障碍综合征可分为两组：1）以肌张力障碍为主要神经异常的综合征，主要由中毒和缺氧性疾病以及扭转性肌张力障碍引起；2）伴有肌张力障碍和智力障碍的综合征，通常为家族性神经代谢疾病。对儿童肌张力障碍的分析显示出一些共同特征：致病脑损伤与肌张力障碍发作之间可能间隔较长时间，且可能持续数年。在神经代谢疾病中，肌张力障碍也出现在出生后第一年之后，此时精神运动障碍已经出现。病因学调查可为多种类型的肌张力障碍提供诊断，有时还能提供治疗方法，例如扭转性肌张力障碍使用左旋多巴，威尔逊病或戊二酸尿症中纠正代谢紊乱。应提供遗传咨询。
