Essay about Huntington's Disease

George Huntington first described Huntington’s disease in 1872, but it was only mentioned to the

Huntington’s disease would affect motor movements such as doing jerks and twitches. Tremors would spread and gradually interfere with walking, speech, and other voluntary movements.

The three most profound behavioral problems in Huntington 's disease come from the uncontrollable movements called "chorea," dementia, and the altered perception of the

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

The movement disorders associated with Huntington's disease can include both involuntary movements and impairments in voluntary movements:

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

The clinical features of Huntington's disease can be thought of as a triad of emotional, cognitive and motor disturbances. Symptoms include chorea (dance-like involuntary movements), clumsiness, slurred speech, depression, irritability, and apathy. Cognitive losses may include attention, intellectual speed, and short-term memory.

Researchers believe that this specific gene is involved with the formation of a structure called the junctional membrane complex, which connects specific channels in the cells with other channels in the surface of the cell. This complex is involved with charged calcium atoms, which is crucial for transferring signals in cells. Juntophillin-3 is most likely involved with signaling in between neurons in the brain. A specific kind of mutation in the JPH3 gene has been found to cause some symptoms and signs that is alike with those who have HD. Researches have named this condition Huntington Disease-Like 2, or HDL 2. The mutation with HDL 2 increases the size of a DNA segment known as CAG/CTG trinucleotide repeat in JPH3. People with HDL2 have 44 to 59 repeats, and people with 29 to around 43 repeats have are not likely to develop signs and symptoms of this condition. Researchers believe that JPH3 gene produces a changed version of messenger RNA. The altered messenger RNA begins to form clumps in neurons that interfere with normal functions of the cells, and eventually lead to the death of neurons throughout the brain which show signs and symptoms of HDL2 (Huntington disease-like

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

Huntington’s disease, named after George Huntington, was discovered in 1872. It is a neurological condition that is caused by an altered gene. This gene is passed from parent to child, but the disease cannot be seen until a later age. As the disease affects the brain by death of brain cells, the patient loses thinking. Also loss of physical and emotional functions such as walking, feeling pain, and lack of display of emotion. The symptoms start to appear when adults are around the age of 30 as well as up to 70. The most common symptom of Huntington’s is chorea. Chorea is where the body jerks, usually in the arms and legs. They may also experience difficulty speaking, swallowing, and focusing.

HCM can present at any age and can affect any race and gender. It is inherited in an autosomal dominant Mendelian pattern, variable expressivity, age-related penetrance, and incomplete penetrance. The probability of affected individuals passing the mutation and risk for the disease on to their offspring is 50 percent. However, de novo mutations may also be present in the proband, and lead to sporadic cases of the disease.

Named after George Huntington, Huntington’s Disease is a hereditary neurodegenerative disease. It “causes the death of specific neurons in the brain, leading to jerky movements, physical rigidity, and dementia (First).” The mutation was first mapped to chromosome 4 in 1983, becoming the first disease gene to be mapped using DNA polymorphisms (First). In 1993, a group of investigators found the gene that causes Huntington’s Disease. It is caused by a mutation in a gene located on chromosome 4 (Mennitto). The gene contains an abnormally large number of CAG (Mennitto). The gene may lengthen when passed from father to child, but not mother to child (Mennitto).

Symptoms of Huntington’s disease typically become noticeable between the ages of 35 and 44 years. In the early stages of the onset of the disease, the physical symptoms are usually the first to be recognized and the onset, progression, and extent of the cognitive and behavioral symptoms vary between patients. The most characteristic initial physical symptoms are involuntary, quick, irregular jerking movements, which is called chorea. Chorea may be initially exhibited as general restlessness, lack of coordination, or unintentionally initiated motions. Normally, chorea precedes other signs of motor dysfunction by at least three years. The more severe motor abnormality, dystonic posturing, commonly appear as the disease progresses and are clear

Early symptoms of the disease are usually subtle in presentation and are often misdiagnosed in the early stage of the disease. The symptomology includes alterations of personality, mood or mental capabilities. People affected by Huntington’s disease gradually exhibit a lack of coordination followed by an unsteady posture and gait resulting in the inability to even stand still. This behavior could mimic other diseases such as a stroke, multiple sclerosis, or Parkinson’s disease. (Alz.org, 2016) As the disease progresses the physical effects on the body become more apparent and pronounced. This includes a decreased ability to walk or talk. Movements become jerky and uncoordinated making even the smallest tasks such as buttoning a shirt, nearly impossible.

Late stage. In this stage, people with Huntington's must depend on others for their care. Walking and speaking is very difficudlt, it might not be possible, Most likely the individual will still be aware of loved ones around them. Fidgety movements may become