Enfermedad de Huntington

Abstract

Huntington's disease is a neurodegenerative disorder that affects both men and women between 30-50 years old, with a prevalence of 10 cases per 100,000 inhabitants. The juvenile and lateonset forms represent 10 and 16% respectively. Huntington's disease reveals as psychiatric, motor and cognitive alterations. About 30% of patients debut with behavioral disorders, which are a major challenge for management by patients, families, and caregivers. The motor alterations or chorea appear later and define the most characteristic feature of this disease. In the present work, we make a review of the disease of Huntington: clinical manifestations, genetic heritage and diagnostic methods; also we present a case of juvenile onset, whose characteristics follow the usual pattern of Huntington's chorea, through all stages of mental and motor regression. Palabras clave: Enfermedad de Huntington, manifestaciones clínicas, genética, huntingtina, afectación cerebral, triplete CAG, diagnóstico molecular, alteraciones psicológicas.