Distonías primarias respondedoras a levodopa (DRD): búsqueda sistemática en Latinoamérica.
Resumen
Las distonías que responden a levodopa (DRD, siglas en inglés) abarcan un grupo de distonías primarias, causadas por deficiencias enzimáticas en la vía metabólica de las aminas y, por definición, comparten como característica principal su respuesta favorable y sostenida a levodopa. Existen hasta seis genes asociados a DRD, siendo el gen GCH1 el más frecuentemente involucrado. La presentación típica de esta entidad se caracteriza por su aparición en la niñez, distonía de inicio en miembros inferiores con fluctuación diurna, leve parkinsonismo y respuesta clara a dosis bajas de levodopa. Se incluye una búsqueda sistemática de la literatura con casos de DRD publicados en Latinoamérica.
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Derechos de autor 2022 Laura Zelada-Ríos, Elison Sarapura-Castro, Karol Solórzano-Palacios, Jorge La Serna-Infantes, Wilfor Aguirre-Quispe, Carlos Cosentino-Esquerre, Luis Urbina-Ramírez, Luis Torres-Ramírez, Pilar Mazzetti, Mario Cornejo-Olivas
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