Dopa-responsive dystonia (DRD): Systematic search in Latin America

Zelada-Ríos L.; Sarapura-Castro E.; Solórzano-Palacios K.; Serna-Infantes J.L.; Aguirre-Quispe W.; Cosentino-Esquerre C.; Urbina-Ramírez L.; Torres-Ramírez L.; Mazzetti P.; Cornejo-Olivas M. · Revista de Neuro-Psiquiatria (2022) · DOI: 10.20453/rnp.v85i1.4154

Resumen

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.

Instituciones: Universidad Peruana Cayetano Heredia; Universidad Nacional Mayor de San Marcos