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Article

Dyskinesias as a limiting factor in the treatment of Segawa disease.

Pediatric neurology - 1 Jun 2012

López-Laso Eduardo, Beyer Katrin, Opladen Thomas, Artuch Rafael, Saunders-Pullman Rachel

Abstract excerpt

Patients with autosomal dominant Segawa disease (dopa-responsive dystonia) demonstrate excellent, sustained response to low-dose levodopa. In contrast, the development of levodopa limiting treatment dyskinesias is thought to support the diagnosis of other early-onset dystonia/parkinsonism syndromes. We describe an atypical phenotype of persistent treatment limiting dyskinesias in a family with prominent brachial...

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Source

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Identifiers

PMID: 22633640
DOI: 10.1016/j.pediatrneurol.2012.03.003
PMCID: PMC3361688

Genes

GCH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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