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...
| Authors: | , , , , , , , , , |
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| Format: | article |
| Status: | Published version |
| Publication Date: | 2022 |
| Country: | Perú |
| Institution: | Universidad Peruana Cayetano Heredia |
| Repository: | Revistas - Universidad Peruana Cayetano Heredia |
| Language: | Spanish |
| OAI Identifier: | oai:revistas.upch.edu.pe:article/4154 |
| Online Access: | https://revistas.upch.edu.pe/index.php/RNP/article/view/4154 |
| Access Level: | Open access |
| Keyword: | 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 |
| Summary: | 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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