Huntington’s disease: a clinical review

Huntington’s disease: a clinical review

2010 | Raymund AC Roos
Huntington's disease (HD) is a rare, autosomal dominant neurodegenerative disorder characterized by chorea, behavioral and psychiatric disturbances, and dementia. It affects 1 in 10,000-20,000 Caucasians, with a mean onset age of 30-50 years. Juvenile HD, starting before age 20, is less common and often associated with a longer CAG repeat. The disease is caused by an expanded CAG repeat in the Huntingtin gene on chromosome 4p16.3. Diagnosis is based on clinical symptoms and family history, confirmed by DNA testing. Management focuses on symptom relief to improve quality of life, using dopamine receptor blocking or depleting agents for chorea, and non-medical care for depression and aggression. There is no cure, and the disease progresses to complete dependency and death, with pneumonia and suicide being the most common causes of death. Research aims to develop disease-modifying treatments and biomarkers for early detection.Huntington's disease (HD) is a rare, autosomal dominant neurodegenerative disorder characterized by chorea, behavioral and psychiatric disturbances, and dementia. It affects 1 in 10,000-20,000 Caucasians, with a mean onset age of 30-50 years. Juvenile HD, starting before age 20, is less common and often associated with a longer CAG repeat. The disease is caused by an expanded CAG repeat in the Huntingtin gene on chromosome 4p16.3. Diagnosis is based on clinical symptoms and family history, confirmed by DNA testing. Management focuses on symptom relief to improve quality of life, using dopamine receptor blocking or depleting agents for chorea, and non-medical care for depression and aggression. There is no cure, and the disease progresses to complete dependency and death, with pneumonia and suicide being the most common causes of death. Research aims to develop disease-modifying treatments and biomarkers for early detection.
Reach us at info@study.space