La enfermedad de Huntington (EH) es una patología neurodegenerativa que afecta la función motora, cognitiva y psiquiátrica, con inicio entre la quinta y sexta década con una supervivencia media de 15-20 años. Actualmente no hay cura, y los tratamientos son sintomáticos, destacando la importancia de continuar participando en ocupaciones para lograr bienestar físico y emocional. Investigaciones sugieren que factores epigenéticos, como la actividad física y nutrición, pueden influir en la progresión de la enfermedad. Nuestro objetivo fue identificar dificultades en el desempeño ocupacional, y validar medidas específicas de evaluación en la EH. Se concluyó que presentan dificultades en el autocuidado; se han establecido unos puntos de corte para medir la actividad física pueden promover un estilo saludable; se ha determinado la precisión de dispositivos que miden el gasto energético y la composición corporal. La investigación proporciona información para desarrollar intervenciones no farmacológicas proporcionando una medicina de precisión y que mejore la calidad de vida de los pacientes y familiares.
Huntington's Disease (HD) is an autosomal dominant neurodegenerative disease characterized by a triad of motor symptoms, cognitive impairment, and personality disorders. The onset age of the disease ranges from 35 to 50 years with a slow although relentless decline over 15 to 20 years, leading to a loss of autonomy and independence in Activities of Daily Living. Occupational therapists believe that engagement in occupation is crucial as they consider it essential for achieving physical, emotional, and social wellbeing of individuals. To assess occupational performance, a specific evaluation process must be undertaken using tools that enable the identification of day-to-day challenges and the impact that the illness has on their life. Up to the present moment, there is no cure for the disease, and pharmacological treatment adopts a symptomatic approach, not without various side effects. In recent decades, several studies have concluded that epigenetic factors such as physical activity and nutrition can produce changes in the clinical manifestations of genetic diseases, influencing the progression of the disease. In order to quantify these changes, the use of reliable and validated measures of assessment within the study population is essential. This thesis provides information about different aspects influencing HD progression. This might facilitate the development of patient-centred non-pharmacological interventions and treatments that delay the disease and help to improve the quality of life and well-being of HD patients and their families.
