Huntington's Disease

Huntington’s Disease, sometimes known as Huntington’s Chorea due to the characteristic involuntary movement of head and limbs, is a progressive neurological disease. It was made famous in several ways. Woody Guthrie, the legendary folk singer, died of HD. HD has dominant inheritance, and is ultimately fatal. HD sufferers experience uncontrolled movements as the neurons involved with various body functions die. Typically, physical decay happens first, followed by mental decay and ultimately a vegetative state.

HD was among the first human disease that was located by positional cloning on the human genome using modern marker technology (see references below). It was sequenced in 1993, confirming that the malady involved a trinucleotide repeat. Despite all the research on this tragic disease, there is no cure and very few medications to alleviate symptoms.

Web Resources for Huntington’s Disease

There are now many web resources out there, but be careful. Some will be disturbing. Some are merely outlets for people who are confused or suffering. However, these and more constructive resources can provide comfort and information for people with HD themselves, and as importantly for caregivers. Below are some that I have found helpful.

Scientific References on HD

  • Gusella et al. (1983) “A polymorphic DNA marker genetically linked to Huntington’s disease”, Nature 306, 234-238.
  • The Huntington’s Disease Collaborative Research Group (1993) “A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes”, Cell 72, 971-983.
  • See Renate Davis’s Bibliography.

In the near future, I intend to post menus and daily schedules that have been helpful for my friend with HD. My friend has obsessive compulsive disorder (OCD), which seems to be common with this disease. If he was a creature of habit before, he is many times more now. Here a few pieces of advice:

  1. Get a memory phone with big digits, and post all relevant phone numbers on the wall near the phone.
  2. Have another large font sheet plainly posted with the HD person’s name, address, and phone number clearly listed. This will be important for caregivers in emergencies, and for daily activities such as deliveries.
  3. Keep a log of what the HD person likes to eat and drink.
  4. Keep a book of menus. Bland likes smoothies, which are easy to swallow and can contain many useful foods. Have a rich but manageable variety of choices, and let the HD person choose.