Huntingtonssjúkdómur

Huntingtonssjúkdómur is a rare, inherited neurodegenerative disorder that affects the brain. It is caused by a genetic mutation in the HTT gene, which leads to the production of a faulty huntingtin protein. This abnormal protein accumulates in the brain, causing damage to nerve cells, particularly in the basal ganglia, a region involved in controlling movement, emotion, and cognition.

The disease typically manifests in adulthood, usually between the ages of 30 and 50, although juvenile onset is also possible. The symptoms are progressive and vary from person to person, but commonly include involuntary jerking or writhing movements known as chorea, cognitive decline such as difficulty with planning, organizing, and memory, and psychiatric disturbances including depression, anxiety, and irritability. Over time, individuals experience increasing difficulty with speech, swallowing, and walking.

Huntington's disease is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. Each child of a parent with Huntington's disease has a 50% chance of inheriting the mutation and developing the disorder.

There is currently no cure for Huntington's disease, and treatments focus on managing symptoms and improving quality of life. Medications can help control chorea and psychiatric symptoms. Physical, occupational, and speech therapy are also important components of care. Genetic counseling is recommended for families with a history of Huntington's disease to discuss the risks of inheritance and available testing options.