Huntingtonsjúkdómur

Huntingtonsjúkdómur is a rare, inherited neurodegenerative disorder that affects nerve cells in the brain. It is characterized by a progressive decline in motor function, cognitive abilities, and psychiatric well-being. The disease is caused by a mutation in the huntingtin gene, which leads to the production of a faulty protein that damages brain cells. This genetic defect is inherited in an autosomal dominant pattern, meaning that a person only needs one copy of the altered gene to develop the disease. Each child of an affected parent has a 50% chance of inheriting the gene and developing Huntington's disease.

Symptoms typically begin to appear between the ages of 30 and 50, although they can manifest earlier or later. Motor symptoms include involuntary muscle movements known as chorea, as well as problems with balance, coordination, and swallowing. Cognitive decline can manifest as difficulties with memory, concentration, decision-making, and problem-solving. Psychiatric symptoms are also common and can include depression, anxiety, irritability, and psychosis. There is currently no cure for Huntington's disease, but treatments are available to help manage symptoms and improve quality of life. These treatments may include medications to control involuntary movements, antidepressants to manage mood disorders, and therapy to assist with cognitive and physical challenges. Genetic testing can determine if an individual carries the mutation for the disease, which can be a complex decision due to the lack of a cure.