What is Huntington's Disease?
Huntington's disease is a hereditary neurodegenerative disorder caused by a mutation in the HTT gene, leading to progressive motor dysfunction, cognitive decline, and psychiatric issues. The disease typically manifests in mid-adulthood, although symptoms can appear earlier or later.
Causes
The primary cause of Huntington's disease is an expanded CAG repeat in the HTT gene, located on chromosome 4. This genetic mutation disrupts the production of the huntingtin protein, which is crucial for neuronal health and function.
Symptoms
- Involuntary movements (chorea)
- Cognitive decline and memory loss
- Emotional disturbances, including depression and anxiety
- Difficulties with coordination and balance
Diagnosis
Diagnosis often involves a combination of clinical evaluation, family history assessment, imaging studies, and genetic testing. Early diagnosis can help in planning for the future and managing symptoms effectively.
Treatment
Currently, there is no cure for Huntington's disease. Treatment focuses on managing symptoms and improving quality of life, with medications available to help control movement disorders and psychiatric symptoms.