Fact: No medication can prevent the physical, mental and behavioral
decline associated with Huntington's Disease.
What is Huntington's Disease?
Huntington's disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. In other words, it is a rare, incurable, inherited brain disorder. Huntington's disease has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders. Approximately 1 in 1 million people are at risk for inheriting Huntington's Disease.
With the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy from each parent. A parent with a defective Huntington gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, therefore, has a 50 percent chance of inheriting the gene that causes the genetic disorder.
Life expectancy in HD is generally around 20 years following the onset of visible symptoms. Most life-threatening complications result from muscle coordination and, to a lesser extent, behavioral changes induced by declining cognitive function. The largest risk is pneumonia, which causes death in one third of those with HD. As the ability to synchronize movements deteriorates, difficulty clearing the lungs and an increased risk of aspirating food or drink both increase the risk of contracting pneumonia. The second greatest risk is heart disease, which causes almost a quarter of fatalities of those with HD. Suicide is the third greatest cause of fatalities, with 7.3% of those with HD taking their own lives and up to 27% attempting to do so. It is unclear to what extent suicidal thoughts are influenced by behavioral symptoms, as they signify sufferers' desires to avoid the later stages of the disease. Other associated risks include choking, physical injury from falls, and malnutrition.
Below is a list of early signs and symptoms which may be relevant in some cases. It is important to remember these may vary depending on the individual:
- Slight uncontrollable movements
- Some slight signs of lack of emotion
- Lack of focus, slight concentration problems
- Lapses in short-term memory
- Mood changes - this may include antisocial behavior and aggression
Symptoms of the disease can vary between individuals and even among affected members of the same family, but usually progress predictably.
In the early stages of HD, people see subtle changes in mood, movement, and cognition. The person with HD may still be able to drive and hold down their job, but might require a little extra help throughout the process.
During this stage, people with HD will lose the ability to work, drive, and need help performing Activities of Daily Living. This is the stage that people tend to apply for disability. The movement disorder will lead to difficulties with balance, swallowing, and voluntary motor tasks. Individuals will have increased difficulty organizing and prioritizing information. The behavioral symptoms will affect everyone differently, but irritability, aggression, depression, and apathy at this stage can lead to personal and family issues, as well as involvement by Law Enforcement.
In the late stage of Huntington’s disease, people require help in all Activities of Daily Living. During this time, the person with HD may lose the ability to speak and respond, but is still able to comprehend what is happening around them. Chorea can be severe or may be replaced by other movement symptoms, including rigidity, dystonia, and bradykinesia. During this stage, many people enter into a Long Term Care facility, which can provide 24/7 care.
**Much of the information contained on this page has been taken from HDSA.org and the Mayo Clinic**
European HD network
Hereditary Disease Foundation
Huntington's Disease Society of America
International Huntington Association