Abstract

ZELADA-RIOS, Laura et al. Dopa-responsive dystonia (DRD): systematic search in Latin America. Rev Neuropsiquiatr [online]. 2022, vol.85, n.1, pp.38-54.  Epub Mar 21, 2022. ISSN 0034-8597.  http://dx.doi.org/10.20453/rnp.v85i1.4154.

Dopa-responsive dystonia (DRD) encompasses a heterogenous group of primary dystonias, caused by enzymatic deficiencies across the amines pathway and, by definition, show as their main characteristic a favorable and sustained response to levodopa. There are up to 6 genes associated with DRD, including pathogenic variants of the GCH1 gene as the most frequently involved. The typical presentation of DRD is characterized by start in childhood, lower limb-onset dystonia with daytime fluctuation, mild parkinsonism, and a sustained response to low doses of levodopa. A systematic literature search on DRD reported cases in Latin America is presented.

Keywords : Dopa-responsive dystonia; Segawa disease; GTP-cyclohydrolase 1 deficiency; tyrosine hydroxylase deficiency; tetrahydrobiopterin.

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