Diagnostic Error in Dystonia

描述（由PI提供）：原发性肌张力障碍，被认为是第三大最常见的运动障碍，是一种影响所有年龄组和种族的慢性神经系统疾病。原发性肌张力障碍的常见亚型包括肌张力障碍性眼睑痉挛、痉挛性斜颈、口下颌肌张力障碍、痉挛性发音障碍和局灶性手张力障碍（作家痉挛）。原发性肌张力障碍对健康、就业和生活质量有不利影响。这种病无法根治，但有许多形式可以有效治疗。在出现肌张力障碍时的错误诊断是常见的，估计在50%到90%之间。正确的诊断往往延迟数年，造成不必要的发病率、痛苦以及更大的医疗保健和社会成本。此外，肌张力障碍患者经常被误诊为装病或患有精神疾病。这个严重的问题还没有得到系统的研究。我们建议利用我们在北加州Kaiser Permanente医疗保健计划中正在进行的研究，该研究正在确定世界上最大的原发性肌张力障碍事件病例队列（R01 NS046340）。通过计算机化的健康利用回顾和直接的患者访谈，我们将识别和描述肌张力障碍错误诊断的频率和特征，包括从症状出现到诊断的时间长度，错误诊断的数量和类型，所见医疗提供者的类型，以及使用不适当的治疗方法。我们还将评估不正确诊断的后果，包括费用和不良事件，以及不正确和延迟诊断对患者生命的影响。通过建立既定的偶发性肌张力障碍队列，建议的设计使我们能够以重新进行这些研究的一小部分成本完成研究目标。确定做出错误诊断的类型和由谁做出的诊断，将为制定未来有效的干预措施奠定基础，从而最终将这一问题最小化。如果成功，这种方法可以应用于其他医疗保健环境，以及其他罕见疾病，以改善医疗保健和效率，并减少痛苦。

DESCRIPTION (provided by the PI): Primary dystonia, thought to be the third most common movement disorder, is a chronic neurological disease affecting all age groups and racial groups. Common subtypes of primary dystonia include dystonic blepharospasm, spasmodic torticollis, oromandibular dystonia, spasmodic dysphonia and focal hand dystonia (writer's cramp). Primary dystonia has adverse effects on health, employment and quality of life. There is no cure, but many forms can be effectively treated. Incorrect diagnosis at the time of presentation with dystonia is common, with estimates ranging from 50% to 90%. Correct diagnosis is often delayed for years, causing unnecessary morbidity, suffering, and greater healthcare and societal costs. Moreover, persons with dystonia are frequently misdiagnosed as malingering or as suffering from a psychiatric disorder. This serious issue has not been studied systematically. We propose to take advantage of our ongoing study in the Northern California Kaiser Permanente Medical Care Plan, which is identifying the world's largest cohort of incident cases of primary dystonia (R01 NS046340). Using computerized health utilization review and direct patient interviews we will identify and describe the frequency and characteristics of incorrect diagnosis of dystonia, including the length of time from symptom onset until diagnosis, the number and type of incorrect diagnoses, the types of medical providers seen, and the use of inappropriate treatments. We will also assess the consequences of incorrect diagnosis, including costs and adverse events, and the impact of incorrect and delayed diagnosis on patients' lives. By building on an established cohort of incident dystonia, the proposed design allows us to accomplish study aims at a fraction of the cost of conducting these studies de novo. Identifying the types of incorrect diagnoses that are made, and by whom, will provide a foundation for developing future effective interventions that can ultimately minimize this problem. If successful, this approach could be applied in other medical care settings, as well as for other rare disorders, to improve medical care and efficiency, and reduce suffering.