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Instituto Nacional de Neurología y Neurocirugía

2016, Número 1

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Arch Neurocien 2016; 21 (1)


Consenso Mexicano sobre el diagnóstico de la enfermedad de Huntington

Neri-Nani G, López-Ruiz M, Estrada-Bellmann I, Carrasco H, Enriquez-Coronel G, González-Usigli H, Leal-Ortega R, Otero-Cerdeira E, Rodríguez R, Aguilar PA, Velázquez-Osuna S, Rodríguez-Violante M

Idioma: Español
Referencias bibliográficas: 34
Paginas: 64-72
Archivo PDF: 150.36 Kb.


RESUMEN

Introducción: la enfermedad de Huntington es un trastorno neurológico de tipo autosómico dominante, de inicio en la edad adulta y de carácter progresivo. La enfermedad de Huntington presenta severas repercusiones, no solo en la calidad de vida del paciente, sino también familiares y sociales.
Objetivo: establecer un consenso sobre las recomendaciones para el diagnóstico de la enfermedad de Huntington sintomática y pre-manifiesta. Enfatizar en los aspectos clínicos, de imagen, genéticos y bioéticos.
Métodos: se llevó a cabo un consenso mediante la utilización de la metodología Delphi, seguida de un grupo nominal integrado por neurólogos con experiencia en el diagnóstico de la enfermedad de Huntington.
Resultados: se presentan los principales datos clínicos para sospecha del diagnóstico de enfermedad de Huntington. Se describen los hallazgos por neuroimagen otorgando su justo valor. Se puntualiza en la interpretación de las pruebas genéticas y por último se abordan los aspectos éticos más destacados.
Conclusiones: la enfermedad de Huntington presenta, más que un reto diagnóstico, un problema con aristas éticas que no deben pasar inadvertidas. Las recomendaciones emitidas son un apoyo para el médico con pacientes que presentan la enfermedad de Huntington.


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