La enfermedad de Huntington, síntomas y tratamiento

Abstract

Huntington's disease is an inherited condition characterized by progressive degeneration of nerve cells in certain areas of the brain; It consists of uncontrolled movements, cognitive impairment and emotional problems. Symptoms usually appear in adulthood, between the ages of 30 and 50, although in some cases they can manifest in youth. This disease is due to mutations in the HTT gene and is inherited in an autosomal dominant manner. George Huntington, in the 19th century, provided the initial description of Huntington's disease, identifying its clinical features and its genetic transmission. The disease is caused by a mutation in the CAG triplet encoding the Huntingtin protein. Currently, CT scans and MRIs reveal the characteristic brain atrophy. It is considered a rare disease, affecting less than 5 people per 10000 inhabitants. The prevalence of Huntington's disease varies in different regions, with incidence rates of 5-10 cases per 100,000 Caucasian patients. This article describes the impact of the disease on the quality of life of patients and caregivers, who face great physical, psychological and social challenges. Coping strategies, social support, and self-care are mentioned; In addition, several treatments and interventions are analyzed, such as: multimodal exercise and multidisciplinary rehabilitation programs; pharmacological therapies are explored including the use of Sativex and the combination of biotin and thiamine; In addition, the alternative of examining the endocannabinoid system as a therapeutic goal, determined in recent research, is analyzed.