The Diagnostic Challenge of Primary Dystonia: Evidence from Misdiagnosis

The Diagnostic Challenge of Primary Dystonia: Evidence from Misdiagnosis
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DOI:
10.1002/mds.23137
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发表时间:
2010-08-15
期刊:
影响因子:
8.6
通讯作者:
Albanese, Alberto
Albanese, Alberto
中科院分区:
医学1区
文献类型:
--
作者:
Lalli, Stefania;Albanese, Alberto

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虽然近年来对肌张力障碍的认识有所提高,但原发性肌张力障碍仍然没有得到充分认识,患者可能无法得到正确的诊断,导致其症状的暂时或永久性错误分类。我们回顾了原发性肌张力障碍的病例,并分析了最初漏诊和后来保留正确诊断的原因。原发性肌张力障碍被误诊的主要是,但不完全是,有利于其他运动障碍:帕金森病(PD),特发性震颤,肌阵挛,抽搐,心因性运动障碍(PMD),甚至头痛或脊柱侧凸。PD和PMD的病例更多,诊断测试,如DAT扫描和心理评估,支持临床方向。在所有病例中,在第一次判断中认识到不一致性和肌张力障碍的独特临床特征后,均获得了正确的诊断。这些线索已在这里收集并组装成诊断缩影。(C)2010年运动障碍协会
Although the understanding of dystonia has improved in recent years, primary dystonia is still insufficiently recognized and patients may not receive the correct diagnosis, leading to transient or permanent misclassification of their symptoms. We reviewed cases of primary dystonia who were at first misdiagnosed and analyzed the reasons why the correct diagnosis was first missed and later retained. Primary dystonia is misdiagnosed mainly, but not exclusively, in favor of other movement disorders: Parkinson's disease (PD), essential tremor, myoclonus, tics, psychogenic movement disorder (PMD), and even headache or scoliosis. Accounts are more numerous for PD and PMD, where diagnostic tests, such as DAT scan and psychological assessment, support clinical orientation. The correct diagnosis was achieved in all cases following the recognition of inconsistencies in the first judgment and of distinctive clinical features of dystonia. These clues have been collected here and assembled into a diagnostic epitome. (C) 2010 Movement Disorder Society