中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (1): 19-23.DOI: 10.19538/j.ek2023010603

• 专题笔谈 • 上一篇    下一篇

儿童遗传性痉挛性截瘫临床与康复进展

  

  1. 浙江大学医学院附属儿童医院康复科  国家儿童健康与疾病临床医学研究中心,浙江  杭州  310000
  • 出版日期:2023-01-06 发布日期:2023-02-10
  • 通讯作者: 李海峰,电子信箱:6199005@zju.edu.cn
  • 基金资助:
    国家中心自主设计项目浙江省内多中心临床研究项目(S20A0002)

Clinical and rehabilitation progress of hereditary spastic paraplegia in children

  1. Department of Rehabilitation,the Chil-dren’s Hospital,Zhejiang  University School of Medicine,National Clinical Research Center for Child Health,Hangzhou  310005,China 
  • Online:2023-01-06 Published:2023-02-10

摘要: 遗传性痉挛性截瘫(HSP)是一组单基因缺陷导致的罕见的神经退行性疾病,主要表现为下肢进行性肌力减退和肌肉痉挛。HSP根据遗传、表型和分子病理生理机制进行分类。虽然基因检测已广泛使用,但仍有局限性,在大多数疑似病例中不能进行分子诊断。目前的治疗措施有助于管理这种疾病,但治疗结果仍不能令人满意。文章旨在对HSP的临床诊断、治疗及康复研究进展进行综述。

关键词: 遗传性痉挛性截瘫, 诊断, 治疗, 康复

Abstract: Hereditary spastic paraplegia(HSP)is a group of rare neurodegenerative diseases caused by a single gene defect,which mainly manifests as progressive muscle weakness and spasticity of the lower extremities. HSP is classified according to genetic,phenotypic and molecular pathophysiological mechanisms.Although genetic testing is widely available,there are still limitations,and molecular diagnosis cannot be made in most suspected cases. Current treatments help manage the disease,but treatment outcomes remain unsatisfactory. This article aims to review the research progress of clinical diagnosis,treatment and rehabilitation of HSP.

Key words: hereditary spastic paraplegia, diagnosis, treatment, rehabilitation