Huntington’s Disease (HD) is a genetic disorder that affects muscle coordination and leads to cognitive degeneration and dementia. The disease is caused by an autosomal, dominant mutation on either of an individual’s two copies of a gene, called Huntington. Because the gene is passed down through families and because of the nature of the gene, as the disease is passed down symptoms develop at younger and younger ages.
HD is also connected to other neurodegenerative diseases. As research progresses, many similarities appear on a sub-cellular level between Huntington’s, Parkinson’s and Alzheimer’s. Discovering these similarities offers hope for therapeutic advances that could ameliorate or cure these disorders simultaneously.
The most common of the two forms of Huntington’s is adult-onset HD, where symptoms typically develop around one’s mid 30s and 40s. The less common form, which is the case with Matt, is early-onset HD, where symptoms begin in childhood or adolescence.
In terms of inheritance, any child of a parent who has one affected copy of the gene has a 50% chance of inheriting the disease. In the rare situations where each parent has one affected copy, the risk increases to 75%, and when either parent has two affected copies, the risk is 100% (all children will be affected). Physical symptoms of Huntington’s disease can begin at any age from infancy to old age, but they usually begin between years 35 and 44. If a child does not get the gene from a parent, the disease cannot be passed on. Persons who do have the disease usually die within 15 to 20 years, more often from infection but also from suicide.
HD affects roughly 1 in 10,000 Americans with 250,000 at risk. Every innocent stumble, trip, muscle twitch or mis-pronounced word triggers a sub-conscience question, “Do I have HD?” There is a genetic test to determine if you carry the HD gene, but there is currently no cure for those who discover that they have it. Understandably, 95% of at-risk people choose to not get tested.
“A Ride with Matt” is a tool to raise awareness and to generate support and funding for research to ameliorate or all together eradicate Huntington’s.
What is an HDSA Center of Excellence?
HDSA Centers of Excellence serve as a focal point for care of people and families affected by HD. Their mission is to provide expert care, participate in research initiatives for the care and cure of HD, and educate the community and care providers. HDSA Centers of Excellence are being established at strategic academic institutions throughout the United States to complete an HD network of resources and referrals.