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Article

Dopa-responsive dystonia presenting as delayed and awkward gait.

Pediatric neurology - 1 Apr 2008

Cheyette Benjamin N R, Cheyette Sarah N R, Cusmano-Ozog Kristina, Enns Gregory M

Abstract excerpt

Dopa-responsive dystonia is a hereditary disease characterized by inadequate dopamine production. Autosomal-dominant cases result from mutations in the GCH1 gene, encoding guanosine triphosphate (GTP)-cyclohydrolase 1. The most common presenting manifestation is dystonia of a lower extremity, oft...

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Source

Identifiers

PMID: 18358407
DOI: 10.1016/j.pediatrneurol.2007.12.005

Genes

GCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18358407-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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