Huntington disease, also known as Huntington's chorea, is a hereditary neurological disorder that causes certain nerve cells in the brain to break down. It is a degenerative disorder that affects a person's physical and mental abilities over time. Symptoms typically develop between the ages of 30 and 50, and include jerky, uncontrolled movements, slowed thinking, difficulty with coordination and balance, depression, and personality changes.
What Causes Huntington Disease?
Huntington disease is caused by a genetic mutation on chromosome 4. It is an autosomal dominant disorder, meaning that a person only needs to inherit one mutated copy of the gene from one parent to develop the disease. The mutated gene results in an abnormal form of a protein called huntingtin, which affects certain nerve cells in the brain.
Who Is at Risk for Huntington Disease?
Anyone who has a parent with Huntington disease has a 50% chance of inheriting the mutated gene. People who do not have a family history of the disease are not at risk for developing it.
Diagnosing Huntington Disease
The diagnosis of Huntington disease is based on a person's medical history, a physical exam, and genetic testing. A neurological exam may be performed to look for signs of the disease, such as abnormal movements or slow thinking. Genetic testing can confirm the diagnosis.
Treatment of Huntington Disease
Currently, there is no cure for Huntington disease. Treatment is aimed at managing the symptoms. Medications may be prescribed to help with movement, thinking, and mood. Physical, occupational, and speech therapy may also be recommended to help maintain quality of life.