Understanding Huntington's Disease
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.
So if one parent has it, and passes the gene on to a child, that child will develop Huntington's disease if they live long enough and each of that child's' children will have a 50% chance of inheriting the gene, and so on and so forth. If you do not have the HD gene you can't pass it on to your children and if your mate doesn't have it then there is no way
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It tends to lessen in the later stages. When the disease occurs in childhood (less than 10% of cases) Chorea is more severe and may coincide with rigidity or muscle stiffness and movement restriction. Both chorea and rigidity interfere with coordination and mobility. Changes in mood are not readily noticeable as they are slow to manifest and can be interpreted as something else (i.e. HD causes depression but so does our society so this symptom often gets overlooked) Anxiety, irritability, rage, mania, and psychosis are also common symptoms. Cognition (the mental process characterized by thinking, learning, and judging) is affected early in the disease and gets worse over time. Individuals will have problems with math, memory, judgment and verbal fluency. It is very difficult for someone with HD to learn a new task, especially in the later stages of development. There currently is neither a cure nor FDA approved medical treatment for Huntington's disease. The life expectancy is 15 -- 20 years after development begins, and though Huntington's itself doesn't directly kill the individual, it causes so many functional breakdowns in the body that the person can no longer perform basic physical operations such as swallowing and as such a common cause of death is choking or respitory infection.
Biochemistry and Molecular Biology
Huntington disease is caused by the expansion of a
George Huntington first described Huntington’s disease in 1872, but it was only mentioned to the
Huntington's Disease is a genetic autosomal disorder which effects the brain. It affects about 1 in 20,000 individuals. The symptoms of the disease do not start to occur until after or around 40 years of age. With the onset of the disease the patient starts to gradually deteriorate intellectually, this deterioration also causes involuntary movements. Scientists have only recently found the section of the gene which causes Huntington's disease, and this is allowed them to devise pre-symptomatic tests. However, a cure for the disease is yet to be found.
Huntington’s disease may be irreversible but it can be treated with proper treatment may slow down the effects of the disease and medical attention. In children who have symptoms of Huntington’s disease, some of the symptoms would be a rapid deteriorating in school performance, lack of swift movements, behavior changes etc...
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
Huntington's Disease is a devastating and progressive neurological disorder that resu lts primarily from degeneration of nerve cells deep in the center of the brain. The condition was first described by George Huntington, a physician in New York, in 1872. Even then, the physician recognized the all-encompassing factors of the disorder when describing it as, "coming on gradually but surely, increasing by degrees, and often occupying years in its development until the hapless sufferer is but a quivering wreck of his former self".
According to aggregation kinetics, the rate of aggregation formation is dependent upon the amount of polyglutamine polypeptides. Aggregates in Huntington’s disease are formed from the mutant huntingtin fragments when the protein is cleaved at the N-terminal. This occurs after a conformation change into a β-sheet conformation. Huntingtin is cleaved by caspase, known for apoptosis, and calpain. Cleavage at caspase-3 sites and inhibited cleavage caspase-6 sites did not produce Huntington’s disease characteristics. Mutant huntingtin proteins contain more active calpains because of the increase in neurotransmitter – glutamate – release, enhancing NMDA-receptor activity. An increased glutamate level on spiny neurons was found to increase apoptosis in nerve cells. There are currently no treatment or cures for Huntington’s disease. However, new therapy ideas are centered on the inhibition of proteolytic cleavage.
4. “Huntington Disease - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/huntington-disease.
At this stage, the individual is completely dependent for their care. A major concern during this time is choking. Also, involuntary movements can either be very severe or have stopped completely ("What Is Huntington's Disease," 2017). Although no longer able to speak, the individual is usually still able to understand language and even be able to recognize family and friends. Those with HD often die due to complications from the disease not actually the disease itself, such as choking and infection ("What Is Huntington's Disease," 2017).
Huntington’s disease is caused by a mutation in the gene for a protein called Huntingtin. The genetic mutation results in the building blocks of DNA (cytosine, adenine, and guanine) to be replicated many more times than in an average individual. As a result, Huntington’s disease breaks down brain cells, or neurons, specifically located in the primary motor cortex regions of the brain, but can effect other brain areas
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
Huntington's disease is an autosomal dominant disorder, which is found on the # 4 chromosome. George Huntington discovered it in 1872. It mainly has an effect on the nervous system. There are around 210,000 bases between D4S180 and D4S127. The disease itself is found in 2% of people in their childhood, and in 5% of the people they were older then 60. (Miller p 16) In the majority of the affected people the disease is detected between the ages of 35-45. In males the disease begins around the time of their childhood. However, in females it begins later in life. This severe symptom has a tendency for the condition to worsen as it is passed on from generation to generation. Huntington’s disease is paternally
Huntington's disease is an inherited genetic disease which can’t be cured. (Staff, M. C , 2014) Huntington's disease is caused by an inherited defect in a single gene. A parent with a defective Huntington gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, therefore, has a 50 percent chance of inheriting the gene that causes the genetic disorder.Huntington’s disease has a broad impact on a patients’ functional abilities and thinking and psychiatric disorders. They get involuntary jerking or writing movements (chorea), have difficulty organizing tasks and learning new things. (Staff, M. C , 2014) Patients act like the girl in Andersen’s fairy tales
Huntington’s Disease is a late-onset fatal genetic disorder that results in the gradual deterioration of nerve cells in the brain. Typical symptoms include involuntary movements, loss of muscle control, depression,
Imagine knowing that, based on your genetics, you are given about 15 years to live from the time that the tremors begin. Now imagine that the time between now and the eventual end will be filled by the full loss of control of your own movements and speech; this all coming to an end with a steady cognitive and psychological decline into madness. This horrible existence is the reality for those diagnosed with Huntington 's Disease.
Huntington Disease is a rare inherited Neurological illness. This illness is passed down from generation, but may not show up until you are an adult and is may no never show up. It often appears in more than one member if it occurs in a family. This a Genetic Condition. The change in the genetic information that is passed down is what causes Huntington's Disease. This illness causes involuntary movements, severe emotional disturbance. Huntington causes parts of the brain to break down and lose some natural functions and affects the Nervous system. The very first noticeable symptoms of this illness in changes in personality and muscle twitches. You would usually start to notice these symptoms around the age of 30 to 50. The men and women with