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Article

A case of dopa-responsive dystonia with a novel GCH1 variant c.579 C > G (p.Ile193Met).

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 19 May 2026

Li Maogeng, Song Bo, She Xiaoyun

Abstract excerpt

BACKGROUND: Dopa-responsive dystonia (DRD) is an underdiagnosed inherited movement disorder characterized by childhood-onset progressive dystonia, diurnal symptom luctuation, and exquisite responsiveness to low-dose levodopa. Misdiagnosis as epilepsy, cerebral palsy, or juvenile Parkinsonism is common due to overlapping phenotypes and non-specific auxiliary examinations. CASE PRESENTATION: A 22-year-old Chinese...

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Identifiers

PMID: 42154052
DOI: 10.1007/s10072-026-09109-x

Genes

GCH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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