Huntington disease (HD) is an inherited progressive neurodegenerative disorder characterized by choreiform movements, psychiatric problems, and dementia. It is caused by a trinucleotide (CAG) expansion in the Huntington gene on chromosome 4p and inherited in an autosomal-dominant pattern. The pathophysiology of HD is not fully understood, although it is thought to be related to toxicity of the mutant huntingtin protein. As there is no known cure, treatment is symptomatic and remains supportive. Genetic mouse models are expanding our understanding of the disease and may lead to disease modifying therapy in the future.
This topic will review the management of HD. Other aspects of HD are discussed separately. (See "Huntington disease: Genetics and pathogenesis" and "Huntington disease: Clinical features and diagnosis".)
No cure or disease-modifying treatment is currently available for HD. Therapy is focused on symptom management and supportive care in order to optimize quality of life. Despite these difficult circumstances, practitioners must be vigilant in caring for patients with HD and their families. The best care is provided by an interdisciplinary team that addresses the broad physical and psychological needs of patients and families, and manages new issues as they arise through long-term follow-up.
●Use of physiotherapy, occupational therapy, and home care may allow for prolongation of community living, although there is a dearth of supporting literature.
●Speech therapy and dietary services are beneficial in managing dysphagia and weight loss.