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Dopa-responsive dystonia (DRD) is an autosomal dominant neurologic disorder characterized by incomplete penetrance and high variability of its phenotypic expression.1 The usual phenotype is defined by early-onset isolated dystonia, predominant in the lower limb, with marked diurnal fluctuations and a dramatic and sustained response to low doses of l-DOPA.2 We report 2 members of the same family (mother and daughter) with a nonsense heterozygous mutation (c.706G>T; p.Glu236*) in the GCH1 gene and having DRD with phenotypic variability.

Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability