Narita Yugo, Taniguchi Akira, Kuzuhara Shigeki
Medical Care Networking Center, Mie University Hospital.
Rinsho Shinkeigaku. 2006 Mar;46(3):193-8.
Amyotrophic lateral sclerosis (ALS), Parkinson's disease (PD) and spinocerebellar degeneration (SCD) are included in the 45 intractable diseases" acknowledged by the Ministry of Health, Labour and Welfare of Japan. The registration of applicants is based on the attending doctors' diagnosis, and medical costs of registered patients are covered by the government. However, the accuracy of the diagnoses has not been investigated previously. The aim of the present study is to investigate the accuracy of the diagnoses of patients registered as PD, SCD and ALS in Mie prefecture of Japan. The study design was cross-sectional and the survey was carried out using an anonymous questionnaire. We asked the attending doctors the most probable clinical diagnosis in each applicant for PD, SCD or ALS at the annual renewal of application form of the specified diseases by the Ministry. The questionnaires were sent to the 57 neurologists in 20 general hospitals and 2 neurology clinics in Mie prefecture, Japan. The survey was carried out from July to September, 2003. For each disorder (PD, ALS, SCD), the accuracy rates were calculated as the ratio of the number of patients with the most probable diagnosis of the consistent disease to the number of all patients registered each disease. Questionnaires on 678 patients replied from 31 neurologists, 27 of whom were the neurology specialists approved by the Japanese Society of Neurology, were retrieved and analyzed. They covered 41.1% of the total registered PD cases, 45.4% of total SCD cases, and 54.0% of total ALS cases in Mie prefecture. The final clinical diagnosis were made by such specialists in 641 cases (94.5%). The accuracy rate of PD was 97.3% for all degenerative parkinsonisms and 90.2% for idiopathic PD, 96.0% for SCD, and 77.8% for typical ALS and 81.5% for ALS and Kennedy-Alter-Sung syndrome. Although the most probable diagnoses were performed by the attending physicians without verification by other raters, the accuracy rates were excellently high in these diseases, partly because most of the attending physicians were neurology specialists. The relatively low accuracy rate in ALS may be caused partly by the difficulty in differentiating it from spine diseases, neuropathies or myopathies at the early stage of the disease when the patients had been registered, or by inclusion of other motor neuron diseases such as Kennedy-Alter-Sung syndrome.
肌萎缩侧索硬化症（ALS）、帕金森病（PD）和脊髓小脑变性（SCD）被列入日本厚生劳动省认可的45种难治性疾病之中。申请人的登记基于主治医生的诊断，登记患者的医疗费用由政府承担。然而，此前尚未对诊断的准确性进行过调查。本研究的目的是调查日本三重县登记为PD、SCD和ALS的患者诊断的准确性。研究设计为横断面研究，并使用匿名问卷进行调查。在厚生劳动省规定疾病申请表每年更新时，我们询问主治医生每位申请PD、SCD或ALS的患者最可能的临床诊断。问卷被发送给日本三重县20家综合医院的57名神经科医生和2家神经科诊所。调查于2003年7月至9月进行。对于每种疾病（PD、ALS、SCD），准确率计算为最可能诊断为该疾病的患者数量与每种疾病登记的所有患者数量之比。从31名神经科医生那里回收并分析了关于678名患者的问卷，其中27名是日本神经学会认可的神经科专家。这些问卷涵盖了三重县登记的PD病例总数的41.1%、SCD病例总数的45.4%和ALS病例总数的54.0%。641例（94.5%）由这些专家做出最终临床诊断。所有退行性帕金森综合征的PD准确率为97.3%，特发性PD为90.2%，SCD为96.0%，典型ALS为77.8%，ALS和肯尼迪 - 奥尔特 - 宋综合征为81.5%。尽管最可能的诊断由主治医生做出，未经其他评估者核实，但这些疾病的准确率非常高，部分原因是大多数主治医生是神经科专家。ALS相对较低的准确率可能部分是由于在患者登记时疾病早期难以将其与脊柱疾病、神经病变或肌病区分开来，或者是由于纳入了其他运动神经元疾病，如肯尼迪 - 奥尔特 - 宋综合征。
