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.
关键词
罕见病/神经系统自身免疫疾病/脊髓小脑共济失调/脑白质营养不良/神经元核内包涵体病
Key words
Rare diseases/Autoimmune diseases of the nervous system/Spinocerebellar ataxias/Leukodystrophy/Neuronal intranuclear inclusion disease
维普
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