Regula Jens Ulrich, Thoden Uwe, Meinck Hans-Michael
Neurologische Universitätsklinik Heidelberg, Im Neuenheimer Feld 400, D-69120 Heidelberg, Germany.
Mov Disord. 2007 Jul 15;22(9):1335-7. doi: 10.1002/mds.21377.
A 33-year-old woman developed exercise-induced limb and trunk dystonia with marked diurnal fluctuations. Treatment with levodopa improved her symptoms considerably but incompletely. Molecular genetic analysis revealed a mutation in GTP cyclohydrolase 1 (GCH1). This report illustrates the variability of Segawa disease and underlines the importance of a levodopa test in patients with uncommon dystonic symptoms.
一名33岁女性出现运动诱发性肢体和躯干肌张力障碍，且有明显的日间波动。左旋多巴治疗使她的症状有显著改善，但未完全缓解。分子遗传学分析显示鸟苷三磷酸环化水解酶1（GCH1）发生突变。本报告说明了Segawa病的变异性，并强调了左旋多巴试验在具有罕见肌张力障碍症状患者中的重要性。
