Huntington's disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems. It typically becomes noticeable in mid-adult life. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea, which is why the disease used to be called Huntington's chorea.
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 next 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 psychiatric 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.
A video from The Huntington's Disease Project
The Huntington's Disease Society of America has a section titled "The Faces of HD" which highlight those who have lived with the disease or have family members affected by the disease. The list also highlights those who have helped advance treatment. Please take a minute to read some of these stories.
The "cheat sheet" about Huntington's from the National Library of Medicine is here.
-------------------------Huntington's is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.