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

• Autores: Zelada-Ríos, Laura, Sarapura-Castro, Elison, Solórzano-Palacios, Karol, La Serna-Infantes, Jorge, Aguirre-Quispe, Wilfor, Cosentino-Esquerre, Carlos, Urbina-Ramírez, Luis, Torres-Ramírez, Luis, Mazzetti, Pilar, Cornejo-Olivas, Mario
• Formato: artículo
• Fecha de Publicación: 2022
• Institución: Universidad Peruana Cayetano Heredia
• Repositorio: Revistas - Universidad Peruana Cayetano Heredia
• Lenguaje: español
• OAI Identifier: oai:revistas.upch.edu.pe:article/4154
• Enlace del recurso: https://revistas.upch.edu.pe/index.php/RNP/article/view/4154
• Nivel de acceso: acceso abierto
• Materia: Dopa-responsive dystonia; Segawa disease; GTP-cyclohydrolase 1 deficiency; tyrosine hydroxylase deficiency; tetrahydrobiopterin; Distonías respondedoras a levodopa; Enfermedad de Segawa; deficiencia de GTP-ciclohidrolasa 1; deficiencia de tirosina hidroxilasa; tetrahidrobiopterina

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.