Mexican consensus on the diagnosis of Huntington's disease

  • Gabriel Neri-Nani
  • Minerva López-Ruiz
  • Ingrid Estrada-Bellmann
  • Humberto Carrasco
  • Guillermo Enriquez-Coronel
  • Héctor González-Usigli
  • Roberto Leal-Ortega
  • Elisa Otero-Cerdeira
  • Rogelio Rodríguez-Alejandro
  • Pedro Aguilar
  • Salvador Velázquez-Osuna
  • Mayela Rodríguez-Violante
Keywords: Huntington disease, consensus, chorea, diagnosis

Abstract

Introduction: Huntington disease is an autosomal dominant, adult-onset and progressive neurological disorder. Huntington disease has severe implications, not only in the quality of life of the patient, but also in the family and social setting. Objective: establish consensus on recommendations for the diagnosis of symptomatic disease and pre-manifest Huntington. Emphasizing in genetic, clinical, imaging and ethical issues. Methods: consensus was obtained using the Delphi methodology, followed by a nominal group meeting of neurologists with expertise in the diagnosis of Huntington’s disease. Results: Key clinical data for suspected diagnosis of Huntigton disease are presented. We describe the neuroimaging findings giving their fair value. Interpretation of genetic testing is highlighted and finally the most important ethical issues are addressed. Conclusions: Huntington disease presents, rather than a diagnostic challenge, a problem with ethical edges that should not go unnoticed. Recommendations given should aid the clinician treating patients with Huntington disease.

Published
2016-03-01
Section
Original Articles