Nygaard T G, Marsden C D, Fahn S
Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032.
Neurology. 1991 Feb;41(2 ( Pt 1)):174-81. doi: 10.1212/wnl.41.2_part_1.174.
We report observations on the treatment of 66 patients with presumed dopa-responsive dystonia (DRD). Forty-seven of these patients had hereditary disease; 19 had disease of sporadic occurrence. Initial diagnostic confusion with "cerebral palsy" or "spastic diplegia" existed in 16 patients. Several patients benefited from anticholinergic medications and a few from carbamazepine. Levodopa was the most effective treatment in all cases. In the majority, there was an excellent response, with continued long-term clinical stability on levodopa therapy for as long as 10 to 22 years. Four men with sporadic disease and 1 woman with a sister affected with adolescent-onset parkinsonism had similar initial treatment response, but developed "wearing-off" and a less satisfactory response to levodopa within the first few years of treatment. This indicates that some patients with clinical syndromes suggestive of DRD may not have an excellent prognosis on long-term levodopa treatment and may represent misclassified cases of childhood-onset parkinsonism.
我们报告了对66例疑似多巴反应性肌张力障碍（DRD）患者的治疗观察结果。其中47例患者患有遗传性疾病；19例为散发性疾病。16例患者最初被误诊为“脑瘫”或“痉挛性双瘫”。部分患者从抗胆碱能药物治疗中获益，少数患者从卡马西平治疗中获益。左旋多巴是所有病例中最有效的治疗方法。大多数患者反应良好，在长达10至22年的左旋多巴治疗中临床长期稳定。4例散发性疾病男性患者和1例有患青少年型帕金森病姐妹的女性患者，最初治疗反应相似，但在治疗的头几年内出现了“剂末现象”，对左旋多巴的反应不太满意。这表明，一些临床综合征提示为DRD的患者，长期左旋多巴治疗预后可能不佳，可能代表儿童期起病帕金森病的误诊病例。
