IDIOPATHIC TORSION DYSTONIA (DYSTONIA MUSCULORUM DEFORMANS) - REVIEW OF 42 PATIENTS
IDIOPATHIC TORSION DYSTONIA (DYSTONIA MUSCULORUM DEFORMANS) - REVIEW OF 42 PATIENTS
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DOI：
10.1093/brain/97.1.793
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发表时间：
1974-01-01
期刊：
影响因子：
14.5
通讯作者：
HARRISON, MJ
中科院分区：
文献类型：
--
作者：
MARSDEN, CD;HARRISON, MJ
IOIOPATINC 扭转肌张力障碍（变形性肌张力障碍）是一种罕见且令人着迷的疾病。第一个描述归功于 Destarac，他在 1901 年报告了一名 17 岁女性的病例，她患有斜颈、斜骨盆、书写痉挛和痉挛性马蹄内翻足（Zeman 和 Dyken，1968）。随后，Schwalbe (1908)、Ziehen (1911) 和 Oppenheim (1911) 都描述了类似的患者。奥本海姆（Oppenheim，1911）创造了“肌张力障碍”一词来描述没有锥体缺陷的肌张力缺陷，并引入了描述性标题“肌张力障碍”。最初，人们对这种新描述的疾病的存在存在一些怀疑，因为有人指出，许多脑部疾病都可能产生扭转肌张力障碍所特有的异常运动障碍（Wimmer，1929），但在 1944 年，Herz 证明扭转肌张力障碍可以在没有明显原因的情况下单独出现，并且由于发现特发性扭转肌张力障碍（肌张力障碍）经常是一种遗传性疾病，特别是这种疾病，实体特发性扭转肌张力障碍（肌张力障碍）被牢固地确立。犹太人中也有这种病（Zeman 和 Dyken，1967；Eldridge，1970）。大多数神经学教科书认为，这种疾病始于儿童时期，并且不断发展，因此，当患者成年时，不可避免地会因怪异的不自主运动和姿势而致残。然而，通过仔细的家庭研究，例如 Zeman、Kaelbling 和 Pasamanick (1960) 的研究，很明显特发性扭转肌张力障碍的严重程度、发病年龄和预后各不相同。此外，这些遗传学研究表明，特发性扭转肌张力障碍可能由许多不同的类型组成，可以根据遗传学和临床基础进行识别。因此，我们对 42 名我们亲自研究过的患者进行了一系列回顾。
IOIOPATInC TORSION DYSTONIA (dystonia musculorum deformans) is a rare and fascinating disease. The first description has been credited to Destarac, who, in 1901, reported the case of a 17-year-old woman who developed torticollis, tortipelvis, writer's cramp and spasmodic talipes equinovarus (Zeman and Dyken, 1968). Subsequently, Schwalbe (1908), Ziehen (1911), and Oppenheim (1911) all described similar patients. Oppenheim (1911) coined the word" dystonia" to describe the faulty muscle tone without pyramidal deficit, and introduced the descriptive title" dystonia musculorum deformans." Initially there was some doubt as to the existence of this newly described illness, for it was pointed out that many diseases of the brain could produce the abnormal movement disorder characteristic of torsion dystonia (Wimmer, 1929), but in 1944 Herz showed that torsion dystonia could appear in isolation without apparent cause, and the entity idiopathic torsion dystonia (dystonia musculorum deformans) became firmly established by the discovery that it is frequently an inherited disease, particularly amongst Jews (Zeman and Dyken, 1967; Eldridge, 1970).Most neurological textbooks suggest that the disease commences in childhood and is relentlessly progressive, so that the patient is inevitably crippled by grotesque involuntary movements and postures by the time he reaches adult life. From careful family studies, however, such as those of Zeman, Kaelbling and Pasamanick (1960), it has become apparent that idiopathic torsion dystonia can vary in its severity, age of onset, and prognosis. Furthermore, these genetic studies have suggested that idiopathic torsion dystonia may consist of a number of discrete types, identifiable on genetic and clinical grounds. We have, therefore, reviewed a series of 42 patients whom we have studied personally.