Diagnostic Error in Dystonia

描述（由PI提供）：原发性肌张力障碍被认为是第三常见的运动障碍，是一种影响所有年龄组和种族组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肌张力障碍（书写痉挛）。原发性肌张力障碍对健康、就业和生活质量有不利影响。没有治愈方法，但许多形式可以有效治疗。肌张力障碍时的误诊是常见的，估计范围从50%到90%。正确的诊断往往被延误数年，造成不必要的发病率，痛苦，更大的医疗保健和社会成本。此外，患有肌张力障碍的人经常被误诊为装病或患有精神疾病。这一严重问题尚未得到系统研究。我们建议利用我们在北方加州Kaiser Permanente医疗护理计划中正在进行的研究，该计划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 NS 046340）。使用计算机化的健康利用审查和直接的病人访谈，我们将确定和描述的频率和肌张力障碍的诊断不正确的特点，包括从症状发作到诊断的时间长度，不正确的诊断的数量和类型，所见的医疗提供者的类型，以及使用不适当的治疗。我们还将评估错误诊断的后果，包括成本和不良事件，以及错误和延迟诊断对患者生活的影响。通过建立在一个既定的队列事件肌张力障碍，拟议的设计使我们能够完成研究目标的一小部分进行这些研究从头的成本。确定错误诊断的类型以及由谁做出的错误诊断，将为制定未来的有效干预措施提供基础，最终可以最大限度地减少这一问题。如果成功，这种方法可以应用于其他医疗环境，以及其他罕见疾病，以改善医疗护理和效率，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.