Huntington’s Disease is a homozygous dominant neurodegenerative disorder caused by a mutation in the HD gene. The mutation involves the basal ganglia‚ striatum and cerebral cortex parts of the brain and causes a CAG trinucleotide repetition. This repetition then proceeds to cause involuntary chorea‚ mood disorders‚ mental instability‚ and eventually leads to death. Since this is a relatively new discovery the Huntingtin gene is still mysterious in many ways to researchers. Many new discoveries have
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Media Critique of Huntington’s Disease There are a lot of different books‚ movies and TV shows that portray neuropsychological disorders. The popular show House M.D. showed the audience so many cases of different diseases that give an interesting knowledge to the viewers. Sometimes it is real life cases‚ but most of the time it is imagination of the screenwriters. Each episode is different and was not focused for a long time on one specific disease except Huntington’s. Dr. Hadley (Olivia Wild)
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FOCUS: “Treatments for lung conditions Cystic Fibrosis sufferers contend with” Word Count: 1461 This essay will aim to explore the different ideas and concepts of using several types of medication for cystic fibrosis sufferers. Cystic fibrosis is a genetic disorder that affects thousands of children and adults across the United Kingdom; it mainly affects Caucasian beings and is a well-known disease throughout the world‚ but has no cure only treatments to ensure a better quality of life
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Huntington’s disease was first ever believed to be discussed in a letter by Charles Oscar Waters in 1842. In 1846 Charles Gorman noted that the disease seemed to occur in a certain region. Symptoms of the disease were described by Johan Christian in 1860. In 1872 George Huntington gave the first complete description of the disease based on his research‚ and so the disease was named after him. In 1993 the huntingtin gene was located. Huntington’s disease is caused by a defective gene. The defective
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Huntington ’s disease John Doe HCS/245 10/20/2013 Prof Jane Huntington ’s disease In 1993 researchers discovered the gene that causes Huntington’s disease. (Huntington ’s disease Society of America‚ 8/27) Huntington’s disease is a disease which progressively degenerates cells in the brain slowly over time. Since the nerve cells in the brain are slowly dying it causes uncontrollable movements‚ emotion changes and other forms of determination of psychological aspects. (The Diagnosis and
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A profile of HUNTINGTON ’S DISEASE Huntington ’s disease is an inherited degenerative neurological disease that leads to dementia. It is a disorder of the basal ganglia causing progressive motor incoordination‚ abnormal involuntary movements (chorea)‚ and intellectual decline. Clinical features and Symptoms: Huntington ’s disease usually causes movement‚ cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly
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Huntington’s chorea‚ or more commonly known as Huntington’s disease (HD)‚ is a neurodegenerative disorder that affects both men and women. Although previously thought to be a relatively rare disease‚ new research discoveries show that it’s actually more common than not; while the onset of symptoms typically occurs in a person’s 40s and 50s‚ research has also shown that individuals in their 70s‚ 80s and even 90s have enough repeats in the HTT gene to develop mild HD symptoms. (Samson‚ 2016) Through
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Huntington’s disease is an autosomal dominant neurodegenerative disorder characterized by an abnormally high number of CAG repeats (polyglutamine) in the huntingtin (HTT) gene (also known as IT15)‚ found in the short arm of chromosome 4‚ specifically‚ p16.3 (Buetow et al. 1991). Symptoms of this disorder include chorea (involuntary jerking movements)‚ cognitive deficits‚ motor deficits‚ and changes in behavior. This disease gets progressively worse over time‚ starting with subtle behavioral‚ cognitive
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Huntington’s disease is a hereditary brain disorder that is progressive in neurodegeneration; which means‚ there is a loss of function and structures of one’s neurons. In the long run it results in the loss of both mental and physical control. The disease affects muscle coordination‚ cognition and behavior. It used to be known as Huntington’s chorea because it is the most common genetic disease that is the cause of abnormal twitching. Huntington ’s has an intense effect on patients‚ as individuals
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HUMAN DISEASE GENETICS Contents Section 1 Title: The Genes of Osteogenesis Imperfecta 3 Section 2 Title: Pathogenesis of Myotonic Dystrophy Type 1 and Type 2 6 Section 3 Title: Huntington Disease Genetics 8 Section 4 Title: The major forms of Glycogen Storage Disease types I‚ III and IX 11 Section 1 Title: The Genes of Osteogenesis Imperfecta (word count = 568) Osteogenesis Imperfecta (OI) is caused by different
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