ABSTRACT
Huntington's disease is the most frequent neurodegenerative disease with a prevalence of fewer than 10 cases per 10,000 inhabitants; the juvenile form is responsible for less than 10% of all cases. Huntington's disease belongs to the group known as "triad syndromes," which evolve with cognitive, motor and neuropsychiatric manifestations. Around 30% of patients debut with behavioral symptoms, which are a major challenge for management by patients, families, and caregivers. Huntington's disease (HD) is reviewed and a case of juvenile onset is reported in this article. The characteristics of juvenile-onset Huntington's disease (HD) differ from those of adult-onset HD, as chorea does not occur, although bradykinesia, dystonia, and signs of cerebellar disorder, such as rigidity, are present, frequently in association with convulsive episodes and psychotic manifestations.
Subject(s)
Huntington Disease , Adolescent , Female , Humans , Huntington Disease/diagnosis , Huntington Disease/therapyABSTRACT
La Enfermedad de Hungtinton es la patología neurodegenerativa más frecuente, con una prevalencia menor de 10 casos por cada 100000 habitantes, representando la variante juvenil menos del 10%. Pertenece al grupo de los llamados síndromes triada, que cursan con manifestaciones psiquiátricas, motrices y cognitivas. Alrededor del 30% de los pacientes debutan con alteraciones conductuales, representado su manejo una de las mayores dificultades tanto para el paciente como para su familia o cuidadores. En este artículo realizamos una revisión de la enfermedad y exponemos un caso de inicio juvenil, cuyas características difirieren de la presentación habitual en la edad adulta, ya que no aparece corea pero sí bradicinesia, distonía y signos de alteración cerebelosa como la rigidez, con mayor asociación con crisis convulsivas y clínica psicótica (AU)
Huntingtons disease is the most frequent neurodegenerative disease with a prevalence of fewer than 10 cases per 10,000 inhabitants; the juvenile form is responsible for less than 10% of all cases. Huntingtons disease belongs to the group known as triad syndromes, which evolve with cognitive, motor and neuropsychiatric manifestations. Around 30% of patients debut with behavioral symptoms, which are a major challenge for management by patients, families, and caregivers. Huntingtons disease (HD) is reviewed and a case of juvenile onset is reported in this article. The characteristics of juvenile-onset Huntingtons disease (HD) differ from those of adult-onset HD, as chorea does not occur, although bradykinesia, dystonia, and signs of cerebellar disorder, such as rigidity, are present, frequently in association with convulsive episodes and psychotic manifestations (AU)
