Huntington's Disease

By: Farah Salem, Cybele Atmeh, and Nadeem Habre

What is Huntington's Disease?

  • HD is a progressive, inherited, degenerative brain disorder that produces physical, mental and emotional changes.
  • It was named after George Huntington, the first physician who described the illness in 1872.

Probability of getting Huntington's Disease

  • Approximately one person in 30,000 in the United States has Huntington's Disease.
  • It is a dominant autosomal disease, meaning that anyone who inherits it from a parent with the disease will eventually inherit the disease.

How the mutated gene affects the brain

People with HD have mistaken one of their two copies of the Huntington gene. This copy of the gene has an extra long sequence of C,A,G nucleotides. The normal form of the gene has 20 or fewer C,A,G repeats and codes for a protein that is thought to be important for nerve cells to work properly. However, the mutant form of the Huntington gene has 36 or more C,A,G repeats which codes for mutant Huntington protein that has a long sticky tail of glutamin, one of the building blocks of protein. The mutant Huntington gene is toxic and is thought to be responsible for killing nerve cells in the brain.

Frequently Asked Questions

  1. What are some common symptoms for this disease? Answer: Slurred speech, falling down, continual muscular contractions, forgetfulness and memory decline, lack of energy, and bipolar disorder in some patients.
  2. Can Huntington's Disease be treated? Answer: Until now there isn't a treatment that rids a person of this disease, however there are some lifestyle changes that can aid in improving a person's condition. Some if them are frequent exercise, special diets, and spiritual and psychosocial support.
  3. Are there methods to diagnose Huntington's Disease? Answer: There are three categories for testing: First there is the prenatal testing which is either amniocentesis or chorionic villus sampling (CVS) which will determine whether the baby inherited the diseased gene or not. Second way of testing is called pre-symptomatic testing, which is for people who are at risk of getting the disease from their parents but don't have any symptoms. Finally, there is the confirmatory testing which determines whether a person that shows what appears to be symptoms for HD actually has the disease.