Chinchihualpa Paredes Nathaly, Pecoraro Pasquale Maria, Zaidi Syed A, Duque Kevin R, Mahajan Abhimanyu, Mohammad Mohammad Edrees, Duker Andrew P, Kauffman Marcelo A, Espay Alberto J, Marsili Luca
James J. and Joan A. Gardner Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, OH.
Research Unit of Neurology, Neurophysiology and Neurobiology, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Italy.
Neurology. 2025 Mar 25;104(6):e213436. doi: 10.1212/WNL.0000000000213436. Epub 2025 Feb 27.
Dopa-responsive dystonia (DRD) encompasses a broad spectrum of phenotypically diverse conditions, offering unique diagnostic challenges. We describe the case of a 24-year-old woman with dystonic gait and jerky position-sensitive limb tremor that initially responded exquisitely well to low-dose levodopa, suggesting DRD. Two years later, she developed parkinsonian features, ultimately leading to a diagnostic reclassification. Despite extensive investigations, the underlying etiology remained elusive until 10 years after symptom onset. We discuss this DRD mimic and briefly review the disorders from which it must be distinguished.
多巴反应性肌张力障碍（DRD）涵盖了一系列表型多样的病症，带来了独特的诊断挑战。我们描述了一名24岁女性的病例，她有肌张力障碍性步态和肢体位置敏感的震颤，最初对低剂量左旋多巴反应极佳，提示为DRD。两年后，她出现了帕金森氏症特征，最终导致诊断重新分类。尽管进行了广泛的检查，但直到症状出现10年后，潜在病因仍不明确。我们讨论了这种DRD的模仿病症，并简要回顾了必须与之鉴别的疾病。
