Huntington's Disease is an inherited disorder in which the brain's nerve cells progressively break down. It causes changes in the central area of the brain, which affects movement, mood, and thinking skills.
Mutations in the HTT gene cause this disease to occur. This gene contains a CAG repeat sequence. The more codon repeats, the age in which the patient suffers from this disease becomes earlier.
The function of the protein produced by HTT, huntingtin, is unknown. However, it is believed to be linked to neurons in the brain. It is also crucial for development before birth.
The disease was first recognized in 1872, by George Huntington, a 22 year old American doctor. HE wrote a paper on chorea, or a term describing involuntary muscle movements, a characteristic of HD. Thus, Huntington’s Chorea, now known as Huntington’s disease, was identified. In earlier days, people did not live long enough for the gene to develop. However, with increased lifespans, the disease became more prominent.
It is estimated that one in every 10,000 people in the United States have the disease. The worldwide rate is about 6 per 100,000 people.
Those who have HD were born with the mutated gene, which they inherited from their parents. Blood testing determines whether an individual carries the mutation. With that said, those affected can be asymptomatic for many years. In most cases, symptoms do not occur until later in life. The onset of the disease is usually mid-life, but it can occur at any time In CHILDREN TO THE ELDERLY.
pedigree of Huntington's Disease
Symptoms include involuntary movements, dementia, psychiatric disturbances, changes in personality, loss of weight, difficulty eating, and speech that is hard to understand.
The disease is diagnosed through blood or tissue samples. A blood test can be requested if family history is known, or can be conducted if SYMPTOMS similar TO THAT OF THE DISEASE occur.
In early stages, some medications can be used to treat involuntary movements. Symptoms of depression associated with the disease can be managed very effectively. Careful nutrition and exercise can be helpful as weight loss occurs. Finally, support symptoms such as therapy, support groups, and contact with family can help.
Huntington’s disease can not be cured, and it occurs in three progressive stages. In the first stage, symptoms are mild and daily life can occur almost normally. In the second stage, symptoms become more pronounced and the patient becomes more disabled. By the third stage, the person affected is unable to do things on their own, and seem to be unaware of their surroundings. Eventually, they pass of other ailments caused by the disease such as malnutrition, heart failure, or pneumonia.
Huntington’s Disease is An inherited DISEASE and the gene for HD is dominant. There is a 50/50 chance of the mutation being passed down, therefore a 50% chance of being affected by this disease.
Looking forward, scientists and researchers are still developing treatments and working on cures for this complex disease.
Sources: "HTT huntingtin [Homo sapiens (human)] - Gene - NCBI." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 05 Feb. 2017.
"Huntington disease - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, n.d. Web. 05 Feb. 2017.
Mennitto, D. "About Huntington's Disease and Related Disorders at The Johns Hopkins Hospital." At The Johns Hopkins Hospital. N.p., n.d. Web. 05 Feb. 2017.
"Huntington's New South Wales." What Is The History Of Huntington's Disease (HD)? | Huntington's NSW. N.p., n.d. Web. 05 Feb. 2017.
"Huntington's New South Wales." How Common Is Huntington's Disease (HD)? | Huntington's NSW. N.p., n.d. Web. 05 Feb. 2017.
31, 2011 Emily on May. Libraries Spotlight BLOG. N.p., n.d. Web. 05 Feb. 2017.
"Huntingtons Disease." Torresbioclan / Huntingtons Disease. N.p., n.d. Web. 05 Feb. 2017.