Fisiopatología de la Enfermedad de Huntington

Abstract

La Corea de Huntington es una enfermedad hereditaria que se transmite de padres a hijos con carácter autosómico dominante. Se ve afectado el sistema nervioso y se produce la destrucción de las células cerebrales por la alteración de diversos factores inmunológicos y celulares. Como consecuencia, desde la aparición de los primeros síntomas, progresivamente surgen problemas a nivel físico en forma de movimientos involuntarios, a nivel psicológico cursando alteraciones emocionales que involucran tanto al paciente como a su familia y, finalmente, a nivel psiquiátrico con disfunciones conductuales, deterioro cognitivo, ansiedad, irritabilidad, etc. llegando a afectar a la autonomía del paciente y al desempeño de las Actividades Básicas de la Vida Diaria. Por ello, existen multitud de métodos diagnósticos precoces tanto por imagen como por estudios genéticos, pasando por exámenes cognitivos. No tiene cura, ninguno de los medicamentos usados en los ensayos clínicos han sido efectivos. Por este motivo el tratamiento es sintomático, destinado fundamentalmente a ralentizar el progreso de la enfermedad. La baja incidencia de la enfermedad tiene como resultado que suela ser desconocida para los profesionales de Enfermería encargados de elaborar los Planes de Cuidados pertinentes y atender a estos pacientes y sus familias tanto en las primeras fases de la enfermedad en Atención Primaria con actividades esenciales como diagnósticos cognitivos precoces o educación sanitaria como en fases tardías en un centro hospitalario previniendo complicaciones potenciales de la enfermedad de Huntington.

Huntington's chorea is a disease of autosomic dominant inheritance with complete penetration. This neurodegenerative syndrome affects the nervous system and the destruction of the brain cells occurs by multiple cellular changes involving several immunological and cellular factors. As consequence, after the appearance of the first physical signs, a progressive physical deterioration with symptoms such as random, uncontrollable and involuntary movements will occur. At psychological levels patients will show emotional disturbances involving both the patient and his family and finally, at psychiatric levels, there will be behavioral disorders, cognitive impairment, anxiety, irritability, etc, affecting patient’s autonomy and performance of the daily basic activities. There are many clinical and predictive genetic tests used as diagnostic methods such as both image and genetic studies; the progression of the disease can be evaluated by using cognitive assessments tests. There is no cure for Huntington´s chorea: none of the drugs tested in clinical trials has yet proven effective. For this reason, the treatment is symptomatic, primarily intended to slow down the progression of the disease. The low incidence of Huntington disease often makes this syndrome unknown to nurse professionals, responsible of the relevant nursing care protocols and management of these patients and their families at both the early stages of the disease (early cognitive diagnoses, health education) and late stages in hospitals, preventing potential complications of Huntington's disease.

ABSTRACT:Huntington's chorea is a disease of autosomic dominant inheritance with complete penetration. This neurodegenerative syndrome affects the nervous system and the destruction of the brain cells occurs by multiple cellular changes involving several immunological and cellular factors. As consequence, after the appearance of the first physical signs, a progressive physical deterioration with symptoms such as random, uncontrollable and involuntary movements will occur. At psychological levels patients will show emotional disturbances involving both the patient and his family and finally, at psychiatric levels, there will be behavioral disorders, cognitive impairment, anxiety, irritability, etc, affecting patient’s autonomy and performance of the daily basic activities. There are many clinical and predictive genetic tests used as diagnostic methods such as both image and genetic studies; the progression of the disease can be evaluated by using cognitive assessments tests. There is no cure for Huntington´s chorea: none of the drugs tested in clinical trials has yet proven effective. For this reason, the treatment is symptomatic, primarily intended to slow down the progression of the disease. The low incidence of Huntington disease often makes this syndrome unknown to nurse professionals, responsible of the relevant nursing care protocols and management of these patients and their families at both the early stages of the disease (early cognitive diagnoses, health education) and late stages in hospitals, preventing potential complications of Huntington's disease.