【摘要】 目的了解罕见病神经系统的基本发病表现,提高对罕见病神经系统表现的认识,为进一步深入研究提供参考。方法筛选出基于Orphanet分类的罕见神经系统疾病,按照相同的神经系统症状和体征进行分类,分析各类别罕见病的异同。结果从罕见病名录中筛选出57种罕见神经系统疾病,占罕见病名录疾病总数的31.49%。这类罕见神经系统疾病表现出无特异性、复杂交错的异常表现,呈现出周围神经病变、癫痫、神经肌肉病等10个类别的神经系统临床症状和体征。结论罕见病多伴有症状和体征复杂的神经系统障碍,鉴别诊断极具挑战性。可结合Orphanet数据库,认真分析疾病与表现之间的关联性,提高罕见病神经系统临床症状和体征的辨认能力。更多还原

【Abstract】 Objective The intention of this thesis is to present the nervous system symptoms of rarediseases with a view to raising researchers′ awareness of these symptoms,providing one of bases for other relevantresearches in the future. Methods Based on the classification in Orphanet database,rare neurological diseasesare picked out and put into different groups. The diseases with the same neurological symptoms and signs are in thesame group. Then,differences and similarities of the diseases in the same group are analyzed. Results 57 kindsof rare neurological diseases are sorted out from rare diseases list and account for 31.49% of total diseases in thelist. These diseases are characterized by aspecific,complex and interlaced neurological abnormalities. Specifically,the above-mentioned neurological abnormalities include 10 kinds of neurological symptoms and signs like peripheralneuropathy,epilepsy,and neuromuscular diseases. Conclusions Rare diseases,in most cases,are featured withcomplex neurological abnormalities,which presents great challenges for identification and diagnosis. In view of thisfact,it is helpful to analyze the connection between rare diseases and their symptoms by adopting the classificationin Orphanet database,which is beneficial for promoting identification on neurological symptoms and signs of rarediseases.更多还原