Levodopa-responsive dystonia (DYT5) in a large family from Minas Gerais: the importance of early diagnosis

Background: Dopa-responsive dystonia associated with mutations in the GCH1 gene (DYT5) is classically described as autosomal dominant but rare cases recessive inheritance have been reported. The (AD) form characterized by a childhood onset and predominates females. It usually starts gait disturbance foot (segmental dystonia) fluctuation of symptoms during day, parkinsonism can be present. treatment consists low doses levodopa diagnosis confirmed identification pathogenic variant gene.