Dopa-responsive dystonia induced by GCH1 gene mutation: a case report

Dopa-responsive dystonia(DRD) is an autosomal dominant or recessive dyskinesia, which is pathologically characterized with reduced amount of dopamine in the substantia nigra and striatum. DRD is mainly manifested with dystonian in early childhood. Low-dose levodopa can mitigate relevant symptoms. Gu...

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Bibliographic Details
Main Author: Wong Kin-Sing, Lam Sio-Kuan, Wong Kit-Hing
Format: Article
Language:zho
Published: Editorial Office of Journal of New Medicine 2022-01-01
Series:Xin yixue
Subjects:
Online Access:https://www.xinyixue.cn/fileup/0253-9802/PDF/1644558988145-1924623268.pdf