Dopa-responsive dystonia (DRD): systematic search in Latin America
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, includin...
| Autores: | , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2022 |
| País: | Perú |
| Institución: | Universidad Peruana Cayetano Heredia |
| Repositorio: | Revistas - Universidad Peruana Cayetano Heredia |
| Idioma: | español |
| OAI Identifier: | oai:revistas.upch.edu.pe:article/4154 |
| Acceso en línea: | https://revistas.upch.edu.pe/index.php/RNP/article/view/4154 |
| Access Level: | acceso abierto |
| Palabra clave: | 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 |
| Sumario: | 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. |
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