Huntington's Disease By Joel hydock

What is Huntington's disease?

Huntington’s disease is a disease in which somebody has spontaneous movements, emotional and other mental health problems, as well as causes someone to lose one’s cognitive thinking.

What is the gene that the mutation occurs in to cause the disease and what protein does it produce?

A gene known as HTT produces a protein called huntingtin. Huntingtin's function has not been proven yet, though it is believed to correlate with peoples nerve cell function.

How and when was Huntington's disease first discovered?

The gene HTT was first discovered in 1993. This was the beginning to extensive research about the gene and the disease associated with it that later became known as Huntington's disease.

What is the incidence rate of the disease?

Currently in the United states there are 30,000 symptomatic people and 200,000 people are at risk of getting the disease. Not much is known about instances of the disease outside of the United States.

Are any specific populations of people affected more than others?

Huntington's disease is most common among people of European ancestry, there are believed to be few people of Asian descent to have this disease

What are the symptoms?

The symptoms are spontaneous movements, emotional problems and loss of cognitive thinking. These symptoms will become more prevalent as the disease progresses and they come in stages. Though, one thing correlated with Huntington's disease unrelated to these mental and nerve issues is weight loss.

How is the disease diagnosed?

The disease is diagnosed through genetic inheritance. A person has a 50/50 chance of having the disease passed down to them from one of their parents. If the disease does not pass on to the child, the disease stops because the child will not carry the gene.

Are there any treatments?

There is no cure for Huntington's disease, but there are treatments like:
  • drugs
  • physical therapy
  • talk therapy

Prognosis

This disease has no cure and will progressively get worse as the person with the disease ages, therefore the prognosis is very bad. It has been told as "Many describe the symptoms of HD as having ALS, Parkinson’s and Alzheimer’s – simultaneously.

What is the genetic pattern of inheritance?

Huntington's disease is a autosomal recessive pattern of inheritance.

Current research

Since 2012 research regarding Huntington's disease has been continued but no breakthroughs have been made. Though much time and effort is currently being put in to find a cure for this disease.
Video summarizing Huntington's disease: http://hdsa.org/what-is-hd/?gclid=CO-Aq_b9-dECFdeLswodkeUAVQ#stages

Citations

"Huntington Disease." Genetics Home Reference, National Library of Medicine, 31 Jan. 2007, ghr.nlm.nih.gov/. Accessed 5 Feb. 2017.

"Learning about Huntington's Disease." National Human Genome Research Institute, 17 Nov. 2011, www.genome.gov/. Accessed 5 Feb. 2017.

"What Is Huntington's Disease." Huntington's Disease Society of America, 2017, www.hdsa.org/. Accessed 5 Feb. 2017.

Created By
Joel Hydock
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