Chen R S, Huang C C, Lu C S
Department of Neurology, Chang Gung Memorial Hospital and Medical College, Taipei, Taiwan.
Clin Neurol Neurosurg. 1996 Feb;98(1):43-6. doi: 10.1016/0303-8467(95)00081-x.
We report the clinical features of four female patients with dopa-responsive dystonia (DRD), and the survey of the family members. The patients were 2 sisters and 2 sporadic patients from 3 families. Their age of onset ranged between 5 and 13 years. The clinical manifestation was characterized by limb dystonia which was relieved by L-dopa treatment. Diurnal fluctuation disappeared 15 years later in one patient. There was a wide spectrum of Parkinsonian features and variability of dystonia. Response of L-dopa was still excellent 20 years later. In survey of the family members, there was neither bradykinesia, rigidity, tremor nor dystonia.
我们报告了4例多巴反应性肌张力障碍（DRD）女性患者的临床特征以及对其家庭成员的调查情况。患者为来自3个家庭的2对姐妹和2例散发病例。发病年龄在5至13岁之间。临床表现以肢体肌张力障碍为特征，左旋多巴治疗可使其缓解。1例患者15年后日波动现象消失。帕金森病特征表现多样，肌张力障碍也存在变异性。20年后左旋多巴反应仍极佳。在对家庭成员的调查中，未发现运动迟缓、僵硬、震颤或肌张力障碍。
