What is huntington deases?

Huntington's disease (HD) is a fatal genetic disorder that causes the progressive deterioration of the nerve cells in the brain. It typically becomes noticeable in people between the ages of 30 and 50, but can occur at any age.

HD is caused by a mutation in the Huntingtin (HTT) gene, which results in the production of a defective protein called huntingtin. This protein accumulates in the brain and leads to the destruction of nerve cells, particularly in the basal ganglia, a region of the brain that is involved in movement control, coordination, and learning.

The symptoms of HD can vary from person to person, but may include:

- Involuntary movements, such as chorea (jerky, uncontrolled movements) and dystonia (sustained muscle contractions)

- Difficulty with coordination, balance, and gait

- Slurred speech

- Difficulty swallowing

- Cognitive impairment, including memory loss, impaired judgement, and slowed thinking

- Behavioral changes, such as irritability, depression, and apathy

- Sleep disturbances

- Weight loss

There is currently no cure for HD, but some medications can help to manage the symptoms. Treatment may also include physical therapy, occupational therapy, and speech therapy to help people maintain their independence and function as well as possible.

Genetic testing can be done to determine if a person carries the HD gene mutation, even before they develop symptoms. This information can help people make informed decisions about their health and future planning.