Nygaard T G, Trugman J M, de Yebenes J G, Fahn S
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY.
Neurology. 1990 Jan;40(1):66-9. doi: 10.1212/wnl.40.1.66.
We examined 106 members of a family affected with dopa-responsive dystonia (DRD), a subset of idiopathic dystonia. Ten members had unequivocal dystonia; 8 of these had generalized dystonia and the other 2 had focal dystonias (writer's cramp and spastic dysphonia). Twenty members had lesser dystonic signs and symptoms suggestive of a diagnosis of dystonia. Five members, including 1 with dystonia, had prominent parkinsonism that became symptomatic in late adulthood. All members affected with dystonia or parkinsonism had increased muscle tone (rigidity), which may represent the minimal clinical expression of DRD. Gene penetrance in families with DRD may be greater than previously suspected.
我们研究了一个患有多巴反应性肌张力障碍（DRD）的家族中的106名成员，DRD是特发性肌张力障碍的一个亚型。10名成员有明确的肌张力障碍；其中8名患有全身性肌张力障碍，另外2名患有局灶性肌张力障碍（书写痉挛和痉挛性发声障碍）。20名成员有较轻的肌张力障碍体征和症状，提示肌张力障碍的诊断。5名成员，包括1名患有肌张力障碍的成员，有明显的帕金森症，在成年后期出现症状。所有患有肌张力障碍或帕金森症的成员肌张力均增加（僵硬），这可能是DRD的最小临床表型。DRD家族中的基因外显率可能比之前怀疑的要高。
