Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Mov Disord. 2010 Aug 15;25(11):1619-26. doi: 10.1002/mds.23137.
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.
尽管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认识不足，患者可能得不到正确的诊断，导致其症状被短暂或永久性地错误分类。我们回顾了最初被误诊的原发性肌张力障碍患者的病例，并分析了首次误诊和后来保留正确诊断的原因。原发性肌张力障碍主要（但并非仅）被误诊为其他运动障碍：帕金森病（PD）、特发性震颤、肌阵挛、抽搐、心因性运动障碍（PMD），甚至头痛或脊柱侧弯。PD 和 PMD 的病例更多，这些病例的诊断测试，如 DAT 扫描和心理评估，支持临床定位。在认识到第一次判断中的不一致和肌张力障碍的独特临床特征后，所有病例都做出了正确诊断。这些线索在这里被收集并组合成一个诊断概要。
