What are some of the symptoms of Huntington’s Disease?
Changes in personality
Mood swings
Depression
Impaired judgement
Involuntary movement
Unsteady gait
Problems with speech
Difficulty swallowing
Rapid weight loss
Symptoms do not typically manifest until ages 30-50. Works Cited: 1. “Huntington's Disease: Read About Treatment Options.” MedicineNet, www.medicinenet.com/huntington_disease/article.htm. 2. “What Is Huntington's Disease?” Huntington’s Disease Society of America What Is HD, Huntington's Disease Society of America, hdsa.org/what-is-hd/. 3. “Huntington's Disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 13 June 2017, www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117. 4. “Huntington Disease - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/huntington-disease. 5. “Huntington's Disease | HD | MedlinePlus.” MedlinePlus Trusted Health Information for You, medlineplus.gov/huntingtonsdisease.html.
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See figure 1 for more information on this mutation.
Genetic Counseling
This disease is inherited from parents, and it is dominant, meaning only one copy of the gene is needed to develop this disorder. It is extremely rare and it affects less than 0.01% of people of European ancestry. See figure 2 for heredity patterns. Testing
If you want to get tested for Huntington’s Disease, a genetic test can be given to see if you carry the gene before symptoms begin. However, this test does not predict when symptoms will appear and which ones will come first. If you decide to get tested for HD, you should contact a testing center. A small blood sample is taken and tested for the defective gene. Samples from family members also at risk of HD may be required to confirm the diagnosis.
Huntington’s Disease is a brain disorder affecting movement, cognition, and emotions (Schoenstadt). It is a genetic disorder generally affecting people in their middle 30s and 40s (Sheth). Worldwide, Huntington’s disease (affects between 3-7 per 100,000 people of European ancestry (Schoenstadt). In the United States alone, 1 in every 30,000 people has Huntington’s disease (Genetic Learning Center). Huntington’s Disease is a multi-faceted disease, with a complex inheritance pattern and a wide range of symptoms. There is also much research being done in the field of Huntington’s disease, because as of 2012, this disease is untreatable. THESIS.
Huntington's disease is an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder.
The genetic disorder is caused by a mutation in the DNA segment CAG found in chromosome 4 which results nerve cell death. Phenotypic characteristics include gradual motor dysfunction, psychological issues that correlate to degeneration of metal health, and cognitive degeneration. Studies on transgenic mice have allowed a better understanding of the proteins that relate to Huntington’s
This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.
Huntington’s disease destroys the organs that carry the functions of the central nervous system. Kalat (2013) states, “Huntington disease (also known as Huntington disease or Huntington’s Chorea) is a severe neurological disorder that strikes about 1 person in 10,000 in the United States” (A.B. Young, 1995, p. 258).Individual’s develop the symptoms in their middle age, but even if it is a rare disorders juveniles as well as children before the age of ten can develop the disease. Huntington’s disease is hereditary disease that is passed on from a parent. Huntington’s disease is of the lack of the chromosome 4, if one of the parents carries the gene, they can pass that gene to their
Huntington's Disease (HD) is an autosomal dominant, progressive, neurodegenerative disorder (Walker, 2007 and Harmon, 2007). The gene that causes the disease is located on the fourth chromosome and causes an abnormal number of repeats in the patient's genetic code (Harmon, 2007). Huntington's Disease can have devastating effects on patients' quality of life. The first symptoms of HD generally start between the ages of 30 and 45 and patients are typically asymptomatic prior to this time (Terrenoire, 1992 and Walker, 2007). However, the disease progresses with subtle changes in motor control, personality, and cognition. Patients eventually develop distinct
At present, there is no cure for the disease, but dynamic progress has been made as researchers explore this illness. HD is inherited as an autosomal dominant condition. In March 1993, scientists realized that HD is caused by a mutation in a gene located on chromosome 4. This gene has a unique genetic sequence for CAG (cytosine-adenine-guanine) and codes for the amino acid glutamine, a building block for the huntingtin pr otein. Normal individuals have this sequence duplicated from 11 to 40 times in their genetic coding without having symptoms of HD. However, individuals with the disease have from 40 up to 100 repeated CAG segments. Juvenile Huntington's Disease occurs wit h 60 or more repeats, linking the longer chains of CAG sequences to earlier and more aggressive onset of the disease.
Huntington’s disease is an autosomal, dominant inherited disorder caused by a polyglutamine expansion at the amino-terminal on the huntingtin protein. It causes a progressive degeneration of spiny nerve cells in the striatum and cortex of the brain, impairing a person’s functional and cognitive abilities. Polyglutamine repeats of 36 are found to be non-threating but sequences containing an additional two or three repeats are associated with Huntington’s disease.
Everyone can relate to the pain of having to watch a grandparent or great-grandparent slowly loose their faculties as they advance into older age. Now, imagine if this seemingly slow digression hit hard and fast at only age thirty. The age where one is finally living alone and independent, with the beginnings of a successful career and the hopes of starting a family and settling down. Huntington’s Disease quickly takes all these dreams and ambitions away, along with control of ones body and mind. The symptoms of Huntington’s, such as involuntary muscle jerks or twitches, had been seen throughout history for many years before being first recognized as an inherited disease in 1872 by Dr. George Huntington (“Hope Through Research). “The hereditary
Huntington's disease is caused by an inherited defect in a single gene. Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the
If the disease is of the homozygous variety in a person it occurs in 1 in every 10,000 people. If the disease is heterozygous then in is found between 1 in every 5,000 people and 1 in every 15,000 people. It is more common in Venezuela then anywhere else, although it is discovered in about 240 people per year in the United States. A DNA marker G8 (D4S10) is closely linked to HD and has been identified as being on the # 4 chromosome and can detect Heterozygotes. (Encarta Encyclopedia) The connection between G8 and HD has not been clinically used because it’s a very serious disease. Theoretically a homozygote can be detected parentally. If a female has a child and she is tested positive for HD and has no history of it, then the father as well as the child a bound to end up with the disease. (Textbook
Huntington's disease is characterized by atrophy of the caudate nucleus and putamen. There are two populations of GABAergic striatal efferent neurons that are involved and this is evident based on their projection targets and neuropeptide content. In the very early stages of the disease there is a major loss of
“An Interview with Dr. Nancy Wexler: Discovering the Huntington Disease Gene.” HD Insights, Huntington Study Group, 2012, chrome-extension://ecnphlgnajanjnkcmbpancdjoidceilk/content/web/viewer.html?source=extension_pdfhandler&file=http%3A%2F%2Fhdsa.org%2Fwp-content%2Fuploads%2F2015%2F02%2Fhd-insights-volume-3.pdf. Accessed 15 Dec. 2017.
Huntington’s disease is a hereditary disorder that affects a person’s nervous system and kills brain cells. It is caused by a defective gene on chromosome four, which is one of the chromosomes that holds our genetic code. This disease has been known to cause problems with the body’s abilities to produce energy from nutrients taken in from the body. Patients that have more advanced stages of Huntington’s Disease commonly experience increased weight loss.
Gene is the basic unit of heredity in a living organism. It is also composed of the DNA (deoxyribonucleic acid). Huntington's disease is caused by abnormal genes in the nerve cells in the brain. In the global population Huntington's disease evaluates that for every 100,000 people 5-10 people are going to have Huntington's disease. In the United States, 30,000 are affected by Huntington's disease and 150,000 people have 50 percent risk of evolving this disease. Moreover, in middle east countries Huntington's disease is estimated to affect 3-4 people per 100,000. Explaining the history, meaning and how the genes of Huntington's disease inherited helps to realize the disease and its risk.