Wednesday, April 23, 2008

What should you do if you have HD?

Doctors suggest that you should....
  • Exercises regularly: You will tend to be better off than those who don't exercises, it can also help you feel better physically as well as mentally. While exercising you need to wear sturdy shoes, to help with your stability. You should keep your house as free as sharp, hard objects, in case of a sudden fall.
  • Proper nutrition: It is said that people with Huntington's disease burn 5,000 calories a day, so you need to make sure you are getting enough nutrition. You may want to consider taking extra supplements and vitamins to help. Cutting your food into smaller pieces will help prevent you from chocking, and allow plenty of time to eat a meal.
  • Fluids, fluids, fluids: With having HD you will dehydrate faster, so you need to make sure you are always hydrated. Especially during hot weather.
  • Keep talking: Some people may need speech therapy to improve communication. Whatever you do, do not isolate a person who suffers from HD, you should try to keep them in as normal enviorment as possible.

What are current and past treatments of HD...?

There is now way to stop HD in this day and age. However, doctors may prescribe different medications to help with the emotional and movement problems (Klonopin, Haldol, Clozaril). Most of them however have side effects including fatigue, restlessness, or hyper excitability. No matter what, people who have HD eventually become physically and mentally disabled. In the past, people have been mistaken for being alcoholics or addicts when they really had HD. The gene was discovered in 1993, so there is really no past treatments on it.

What are HD symptoms...?

There are many signs and symptoms that show whether or not you have Huntington's disease...

  • Personality changes.
  • Decreased cognitive abilities.
  • Irritability.
  • Anger.
  • Signs of depression.
  • Jerky, involuntary movements throughout your body.
  • SEVERE problems with coordination and balance.
  • Difficulty shifting your gaze without moving your head.
  • Hesitant, halting, or slurred speech.
  • Dementia.
  • Problems swallowing.

The disease in most cases develops slowly and the signs and symptoms that you have of the disease varies related to the degree of nerve cell loss. Death usually occurs 10 to 30 years of symptoms showing.

How is HD diagnosed...?

There are many ways to see whether or not you have Huntington's disease. Your doctor will do a physical exam, and get all your medical history, as well as your family. They may ask you about recent emotional or intellectual changes you have faced. As well as a computerized tomography or magnetic resonance imaging (MRI) scan may or may not show changes to your brain's structure. Your doctor may also suggest you take a blood test to see if you have the defective gene.

How is HD inherited...?

Huntington's Disease is inherited, you would only need one affected person to inherit the disease. The size of the CAG repeat expands as it is passed on from generation to generation. If one parent has the disease, you will have a 50 percent chance of inheriting it. However, if you do not inherit the HD gene, there is no possible way for you to pass it on to your offspring. Sometimes you do not need a parent with HD, it can occur randomly. It is said to be caused by a genetic mutation, or an alternation in the gene, that happens during sperm development.

Tuesday, April 22, 2008

What causes HD...?

Huntington's Disease is caused by a mutation in the HD gene, on chromosome 4. This gene is what provides information to make a protein, huntingtin. What huntingtin does is unknown to scientists at this time, they do know some things about it including it plays a very important role in nerve cells. What happens is when a DNA segment, a CAG repeat, become much larger than what it is supposed to be within the HD gene. It is supposed to be repeated 10 to 35 times, but people with CAG segment it is repeated 36 to more than 120 times. This then leads to producing a huntingtin protein that has a long stretch of the amino acid glutamine.

What is Huntington's Disease...?

Huntington's Disease is a disorder in the brain. It was once known as Chorea, coming from the Greek word for dance, the dancing disease. It causes nerve cells, neurons, to waste away in your brain, making involuntary movement to take place as well as mental and emotional problems, and loss of thinking ability. Doctors refer to this disease as an autosomal dominant disorder because only one copy of the defective gene, which can be inherited from either parent, is needed to produce the disease.

MRI of normal (non Huntington's) brain on the left compared to a Huntington's brain on the right.