Aproximación diagnóstica de las ataxias hereditarias en el Perú
DOI:
https://doi.org/10.20453/rnp.v89i1.6254Palabras clave:
ataxias hereditarias, diagnóstico, diagnóstico diferencial, ataxias espinocerebelosas, degeneraciones espinocerebelosasResumen
Las ataxias hereditarias representan un grupo diverso de enfermedades neurogenéticas caracterizadas por alteraciones en la coordinación motora, debido a la disfunción del cerebelo o sus vías asociadas. Estas enfermedades incluyen formas autosómicas dominantes, recesivas, ligadas al cromosoma X y mitocondriales. El diagnóstico y el tratamiento son complejos, más aún en regiones con recursos limitados como Perú y otros países de Latinoamérica, donde se presentan desafíos adicionales. Esta revisión propone un enfoque diagnóstico estructurado para las ataxias hereditarias que consiste en cinco ejes: 1) confirmación del tipo de ataxia (cerebelosa o no cerebelosa); 2) edad de inicio; 3) forma de presentación (predominantemente pura o plus); 4) historia familiar; y 5) exclusión de causas reversibles o secundarias. Los estudios auxiliares más útiles en el diagnóstico diferencial, dependiendo de la información recolectada de los 5 ejes, incluyen análisis séricos, neuroimagen, estudios neurofisiológicos, evaluaciones neurooftalmológicas, pruebas vestibulares y estudios genéticos (genes específicos, paneles genéticos, exoma y genoma clínico). La implementación de un enfoque diagnóstico basado en estos pilares optimiza tanto el diagnóstico como el manejo clínico de esta enfermedad, especialmente en contextos con recursos limitados.
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Derechos de autor 2026 Andree Yerba-Coanqui, Jesús Gutierrez-Arratia , Elison Sarapura-Castro, Andrea Rivera-Valdivia , Maryenela Illanes-Manrique, Ismael Araujo-Aliaga, Ana Saldarriaga-Mayo, Richard S. Rodriguez , Mario Cornejo-Olivas
Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial 4.0.
