关注神经罕见病,提高临床诊治水平

Focusing on rare neurorare diseases to improve clinical diagnosis and treatment

罕见病是患病人数占总人口0.065%~0.1%之间的疾病,单个罕见病的发病率低,但是其种类多,据统计现有各类罕见病患者2000余万人,可见罕见病并不罕见。罕见病中约40%为神经罕见病,包括神经免疫性疾病(如自身免疫性脑炎等)、神经遗传性疾病(如脊髓小脑性共济失调、脑白质营养不良、神经元核内包涵体病等)。神经罕见病呈进展性,多为终身疾病,严重者可危及生命。然而,神经罕见病面临众多困难和挑战,如就医、诊断和治疗的困难。因此,我们亟须关注神经罕见病,加强对罕见病的认识,提升诊疗水平、服务质量,开展科普宣教以及创新临床研究,以建立完善的神经罕见病诊疗体系。

Rare diseases are diseases whose number of patients accounts for 0.065%-0.1%of the total population.The incidence rate of a single rare disease is low,but there are many kinds of rare diseases.According to statistics,there are more than 20 million patients with various rare diseases,which shows that rare diseases are not rare.About 40%of rare diseases are neurorare,including neuroimmune diseases(such as autoimmune encephalitis)and neurogenetic diseases(such as spinocerebellar ataxia,leukodystrophy,and intranuclear inclusion body disease).Neurological rare diseases are progressive and often lifelong,and in severe cases can be life-threatening.However,rare neurological diseases face numerous difficulties and challenges,such as difficulties in seeking medical treatment,diagnosis,and treatment.Therefore,we urgently need to pay attention to rare neurological diseases,strengthen our understanding of rare diseases,improve the level of diagnosis and treatment,service quality,carry out popular science education and innovative clinical research,in order to establish a sound diagnosis and treatment system for rare neurological diseases.