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Description

icecchi20 — 2018-03-20 17:18:31 UTC

Huntington’s disease is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. Is shown with uncontrollable movements, severe memory loss and eventually death.
Some describe it as Alzheimer's, ALS and Parkinson's all simultaneously.

Shown By Person with Disease

icecchi20 — 2018-03-20 17:23:28 UTC

Usually appear between the ages of 30 to 50, and worsen over a 10 to 25 year period. Some of the main symptoms include uncontrollably movement called chorea. Chorea movements affect your hands, feet, face and trunk.
Other symptoms include:

Stiff and abnormal body positions
Clumsiness
Slurred speech
Mood swings and changes in behavior and personality
Loss of ability to think clearly
Memory loss
Poor judgment
Depression
Loss of ability to swallow
Significant weight loss

icecchi20 — 2018-03-20 17:29:14 UTC

Bates, G P. “History of Genetic Disease: the Molecular Genetics of Huntington Disease - a History.”Nature Reviews. Genetics., U.S. National Library of Medicine, Oct. 2005, www.ncbi.nlm.nih.gov/pubmed/16136077.

Haiber, Jordan. “Major Symptoms and Effects of Huntington's Disease.” EmpowHER, 29 Oct. 2014, www.empowher.com/media/reference/major-symptoms-and-effects-huntingtons-disease-genetics
me Reference.” U.S. National Library of Medicine, National Institutes of Health, 6 Oct. 2005,

Jones, L, and A Hughes. “Pathogenic Mechanisms in _{^{Huntington's Disease.”}}_{^{International Review of Neurobiology.}}_{^{, U.S. Natioal Library of Medicine, 2011, www.ncbi.nlm.nih.gov/pubmed/21907095}}

“What Is Huntington's Disease?” Huntingtons Desease Society of America What Is HD Comments, hdsa.org/what-is-hd/.

Jones, L, and A Hughes. “Pathogenic Mechanisms in Huntington's Disease.” International Review of Neurobiology., U.S. Natioal Library of Medicine, 2011, www.ncbi.nlm.nih.gov/pubmed/21907095

icecchi20 — 2018-03-21 18:16:24 UTC

There is no cure and no treatment known to slow or stop the diseases progression. However, various therapies can help manage symptoms.
Austedo (deutetrabenazine) is the first and only medication approved to help treat chorea associated with Huntington's disease in adults.
This medicine can be used to help the involuntary movements called chorea, but does not cure the movements or treat other symptoms of the disease.

Side effects of Disease

icecchi20 — 2018-03-21 18:41:09 UTC

Emotional & Behavioral Symptoms:
-uncharacteristically irritable
-passive
-depressed/angry
Cognitive Changes
-judgment
-memory
-concentration on intellectual tasks
Uncontrollable Body Movements
-disease begins with uncontrollable movements in fingers, feet and face
Speech and Vital Functions
-speech my become slurred
functions such as swallowing, eating, speaking and especially walking
-some individuals do not recognize other family members
Side Effects of Treatments
Austedo side affects include:
-depression, suicidal thoughts or suicidal actions
-sudden changes in mood behaviors, thoughts or feelings
Irregular Heartbeat
-increased chances of having certain changes in electrical activity in heart
-can lead to dangerouse adnormal heartbeat
Neuroleptic Malignant Syndrome
-high fever, stiff muscles, problems thinking, increased sweating
Most Common side affects of Austedo
-include sleepiness, diarrhea, tiredness and dry mouth

icecchi20 — 2018-03-21 19:15:42 UTC

Huntington's is caused by a gene mutation that makes a protein in brain cells called the Huntington's gene. In people with the disease, the gene has expanded/ repeated abnormally. This gene mutation is passed down through families. If a parent has Huntington's their children have a 50% chance of developing it. Blood tests identify the genetic mutation and helps doctors diagnose the disease.

Gene Mutation

icecchi20 — 2018-03-21 19:24:24 UTC

The HD gene, which results in the mutation that is Huntington's disease, was mapped on chromosome 4. The mutation is a characteristic expansion of a nucleotide triplet repeat in the DNA that codes for the protein Huntington.

The image below shows how the HD gene is shown with the chromosome. Dominant genotypes result in the gene being effective.

The HTT mutation involves a DNA segment known as a CAG trinucleotide repeat shown in the picture below.

This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. Increase in the size of the CAG segment leads to the production of an abnormally long version of the Huntington protean. With the death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease

icecchi20 — 2018-03-21 19:51:53 UTC

Huntington disease is found in many different countries and ethnic groups around the world. Highest frequencies are found in Europe and countries of European origin, such as the United States and Australia.

The image above shows the frequency of HD (cases per million people)

icecchi20 — 2018-03-21 20:07:34 UTC

There is no cure or control for Huntington's disease or prevention. There is no prevention but medications can be taken to help with some symptoms but will not cure them.