一种罕见的疾病是在人群中患病率较低的疾病。然而,据估计,世界上有6000到8000种不同类型的罕见疾病,一般来说,他们是无法治愈和致命的。马查多-约瑟夫病(MJD)是这些病例之一;遗传起源,常染色体显性,在几代人之间传播的可能性很高,没有治疗。鉴于MJD的特殊性和缺乏与之相关的经济研究,本文旨在估计由马查多-约瑟夫病引起的生产力损失的直接和间接健康相关成本。使用的数据主要是在阿雷格里港Clínicas医院(HCPA)收集的,在2019年10月至2020年3月期间。使用了自下而上的成本方法,也就是说,估计患者样本的成本,以产生每位患者的年度成本。在主要成果中,发现90.8%的样品不起作用,其中,72.73%的人报告说他们停止工作的原因是由于Machado-Joseph的疾病。男性停止工作的平均年龄为39.05岁,女性为39.64岁。关于直接非医疗费用,康复和运输,研究发现,这些项目影响了约32%的男性收入和36%的女性收入,以及药物和尿布费用影响约15%的女性收入和14%的男性收入不再能够工作。研究还表明,50%的护理人员,通常是病人的近亲,不工作。其中,33.3%的人报告已离开劳动力市场为患者提供帮助,这意味着家庭的费用甚至高于患者的估计。
A rare disease is that with a low prevalence in the population. However, it is estimated that there are between 6,000 and 8,000 different types of rare diseases in the world and, generally, they are incurable and deadly. Machado-Joseph\'s disease (MJD) is one of these cases; of genetic origin, autosomal dominant, with a high chance of transmission between generations and without curative treatment. Given the specificities of MJD and the lack of economic studies associated with it, this article aims to estimate the direct and indirect health-related costs of lost productivity attributable to Machado-Joseph\'s Disease. The data used were primarily collected at the Hospital de Clínicas de Porto Alegre (HCPA), during the period between October 2019 and March 2020. The bottom-up cost methodology was used, that is to say, to estimate costs across a sample of patients to produce an annual cost per patient. Among the main results, it was found that 90.8% of the sample does not work and of these, 72.73% reported that the reason they had stopped working was due to Machado-Joseph\'s disease. The average age of men when they stopped working was 39.05 years of age and for women it was 39.64 years of age. In relation to direct non-medical costs, with rehabilitation and transport, it was found that these items affect about 32% of men\'s income and 36% of women\'s income, as well as medication and diapers costs affect about 15% of women\'s income and 14% of the income of men who are no longer able to work. The study also showed that 50% of caregivers, who are generally close relatives of the patient, do not work. Of these, 33.3% reported having left the labor market to provide assistance to the patient, which means that the cost for families is even higher than that estimated for the patient.