Huntington's Disease
Taylor Hamlett Genetic Disorder Project
Background
Huntington's Disease is a fatal genetic disorder that causes the progressive breakdown of the nerve cells in the brain. This disease affects chromosome number 4 as a single gene mutation. Dr. George Huntington was the first person to describe the disease in 1872. It was eventually named after him.
What is the life expectancy of someone with Huntington's Disease?
The life expectancy for someone with Huntington's Disease is different for every person. Even though there is no life expectancy, the average person after being diagnosed will live for another 10-30 years.
What are the side effects and symptoms of this disease?
Huntington's Disease affects parts of the brain that controls thinking, emotions, and movement. People with Huntington's Disease start to see symptoms between the ages of 30-50 but could be developed earlier or later. It affects the brains's Basal Ganglia. Some side effects include poor memory, depression, mood swings, lack of coordination, uncontrolled movements, and difficulty speaking, swallowing, and walking. Later stages of this disease can affect simple tasks such as getting dressed. People with Huntington's Disease describe it as having ALS, Parkinson's, and Alzheimer's Disease all at once.
George Huntington
George Huntington discovered Huntington's Disease in 1872.
Brains
In the image above, is two brains. In the one on the left, is a brain with Huntington's Disease. The brain on the right is a normal brain.
Punnet Square
Above is a punnet square of the possible offspring of a parent heterozygous Huntington's Disease and another parent homozygous recessive.
How is this disorder inherited and how common is it?
Huntington's Disease is inherited in a dominant pattern. A parent with this disease has a 50% chance of passing it down to their children. In the United States, 1 out of every 30,000 people have it.
How can you determine that someone has this disease?
You can determine if someone has this disease during or after pregnancy. During pregnancy, you can take a sample of fluid from around the baby or taking a sample of the cells. After pregnancy, you can go through a series of neurological and psychological tests to determine if you have it. You can determine that you have the disease, but you can't determine what age you will start to get symptoms.
Is there any way to prevent this disorder?
There is no way to prevent this disorder. Even though you can't prevent, the patient can get treatments that make them more comfortable. These treatments can't help slow down the disease process. The medications used by patients with Huntington's Disease ease the feelings of depression and anxiety. Speech therapy and physical therapy may be prescribed to help relieve pain.
What organizations or support groups are available to help individuals or families with this disorder?
The website Huntington's Disease Society for America offers support groups, fundraisers to raise money for a cure, and social workers to talk to. Some events coming up to raise money is The Team Hope walk, Huntington's Education Day, and Strike Out HD bowling event. To visit Huntington's Disease Society of America, visit http://hdsa.org/
Affected part of brain
Huntington's Disease affects the Basal Ganglia located in the telecephalon part of the brain.
Dark Blue Ribbon
Dark Blue is the color that stands for Huntington's Disease.
Chromosomes
This is all 46 chromosomes of someone with Huntington's Disease. It affects chromosome number 4.