Ontology highlight
ABSTRACT:
SUBMITTER: Lopez-Laso E
PROVIDER: S-EPMC3361688 | biostudies-literature | 2012 Jun
REPOSITORIES: biostudies-literature
López-Laso Eduardo E Beyer Katrin K Opladen Thomas T Artuch Rafael R Saunders-Pullman Rachel R
Pediatric neurology 20120601 6
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 dystonia and a novel GCH1 mutation. The pedigree comprised two affected members: the ...[more]