Huntington’s Disease is a disease that kills off brain cells in adults. The disease is estimated to actively plague in 30,000 people in the United States, and leaves 150,000 people with a 50% chance of developing Huntington’s (Huntington’s Disease Statistics). Huntington’s disease is passed down from parent to child. The disease comes from a defect in chromosome four that triggers the production of defective a defective protein called “huntingtin”, which kill off brain cells affecting reasoning and motor skills. Unfortunately the defective chromosome four is dominant and can appear even if one parent is not a carrier of Huntington’s Disease. In a person free from the disease, the activity of chromosome four and it’s normal huntingtin is …show more content…
It was first believed to be simply a movement disorder that occurred in specific areas. However in 1872, George Huntington published a description of the disease, which we know today as being, simplistic but accurate. After having studied several generations of a families with these jerky movements, he established that it must be a dominant genetic disorder because children with parents from both unaffected and affected family would develop the disease. In his publication, he named the disease for himself. In 1911, Elizabeth Muncy created a pedigree of families affected with the disease and proved Huntington’s theory of the disease being dominant genetic. She also proved that the disease could affect anyone in their adulthood, males and females alike. In 1983, the United States and Venezuela partnered to research Huntington's Disease and determine if there existed a prevention of the disease. Ten years later in 1993, the researchers determined the location of the disease to be on chromosome four and were able to develop some treatments to suppress the production of huntingtin to help those with the disease (Huntington’s Disease …show more content…
Symptoms for Huntington’s disease usually become apparent later in life, between the ages of 30 and 50, but in unusual and severe cases can be visible from as early as age 2. There are three distinct types of symptoms defective huntingtin kills off brain cells, Cognitive, Psychiatric, and Movement disorders. Cognitive Disorders include difficulty in focusing on tasks, a tendency to get stuck on a thought, lack of control that can result in outbursts, lack of awareness of self-behavior, slowness in processing ideas, and difficulty in learning. Psychiatric disorders from Huntington's Disease, is most often depression, however they can also be obsessive compulsive disorder (OCD), or repeating actions over and over again, mania, or overactivity and hyperactive behavior, bipolar disorder, which is uncontrolled alternating behaviors of depression and mania. Movement disorders include jerking movements, muscle problems, slow eye movements, impaired posture and balance, difficulty with the speech or swallowing, as the tell- tale symptoms for Huntington's Disease . As a result of the above symptoms, it is also common for people with Huntington’s is drastic weight loss (Huntington's
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 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".
Huntington’s Disease (HD) is a genetic disorder in which the necrosis of cells in the brain causes early death [9]. The neurodegeneration of the brain leads to mechanical and psychological symptoms, which can present normally from 30 to 50 years of age or even earlier, which is referred to as Juvenile Huntington’s Disease [3,5,6]. Some mechanical symptoms of HD are change in gait, uncontrolled or sudden movement, abnormal face movement, turning the whole head instead of using the eyes, difficulty swallowing, impairment of speech and general decrease of motor skills [1]. Psychological symptoms include but are not limited to paranoia, irritability, mood swings, changes in behavior such as agitation or instability and
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 gradually lose the ability to reason, speak and swallow. Also, motor symptoms, which affects in problems with walking, (Mayo Clinic Staff, 2011).
To this day, I have yet to meet another person with Huntington disease but I since then I have been intrigued by the disorder. The goal of this paper is to provide
Huntington Disease is a progressive brain disorder which causes uncontrolled movements, loss of thinking ability, and emotional problems. There are two types of Huntington Disease, Adult-onset and Juvenile. Adult-onset is the most common form of Huntington Disease and those diagnosed live about fifteen to twenty years after beginning symptoms. The early signs and symptoms include depression, small involuntary movements, irritability, poor coordination, difficulty in making decisions, and difficulty retaining new information. As it progresses, the involuntary movements become more pronounced causing issue with walking, speaking, thinking, reasoning abilities, and personality changes (1).
Huntington’s disease is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain and eventually causes death. It is caused by a mutation in a gene that is responsible for producing the huntingtin protein. Over a period of time, physical and mental abilities gradually deteriorate, and there is currently
Huntington’s disease, also known as Huntington’s chorea, is a rare pathology among the nervous system. With fewer than 200,000 US cases per year is an inherited condition in which nerve cells in the brain break down over a period of time. This disease will usually start to effect people when they are in their 30s or 40s. Huntington’s usually results in psychiatric symptoms, progressive movement and thinking. No cure to this disease exists but physical therapy, drugs, and talk therapy can help manage symptoms.
Huntington’s Disease (HD) is a genetically inherited, progressive, autosomal dominant, fatal neurodegenerative disease that’s characterized by behavioral difficulties, decline of cognitive abilities, abnormal involuntary movements (chorea), and muscle spasms (dystonia) (1). These characteristics help diagnose patients with HD, but a genetic test can be done to prove that one has the disorder. The gene responsible is that which produces the huntingtin protein in chromosome 4; the defect causes extra repeats of the chemical code (2).
Discovered in 1872 by George Huntington, Huntington’s disease, also known as Huntington’s cholera, is a genetic disease that causes selected nerve cells in the brain to die (Johns Hopkins). This leads to uncontrolled movements, emotion problems, and decreased cognition. Generally acting as an adult onset disease, Huntington’s disease is commonly seen to begin in one’s thirties and forties. Once the symptoms begin, the patient generally lives fifteen to twenty more years before succumbing to inevitable death.
A diagnostic genetic test is now available. The test can confirm that the defective gene for huntingtin protein is the cause of symptoms in people with suspected Huntington's disease and can detect the defective gene in people who don't yet have symptoms but are at risk because a parent has Huntington's. The defective gene causes all Huntington’s disease protein gene. The DNA diagnostic test for mutation in the Huntingtin gene has improved the ability to diagnose Huntingtin in elderly individuals with atypical features in individuals without a family history. (Chaganti, McCusker, and Loy ,2017). Studies by Chaganti, McCusker, and Loy reveal no knowledge is established yet for the understanding of function of huntingtin and how repeated nucleotides can cause the symptoms shown in Huntington’s disease. Researchers are eager to solve these mysteries to find the answer to Huntington's. Recent studies of genetic testing patients’ diagnoses were confirmed, Individuals proportion with late-onset Huntingtin was 4–11%. The late-onset Huntingtin in 1995 or earlier studies was 4–28%. These older studies definitions for late-onset Huntingtin, with the late age of onset less than 60 and less than 50 years (Chaganti, McCusker, and Loy
Huntington’s disease, or Huntington’s chorea, is a neurodegenerative genetic disorder that affects muscle proficiency and proceeds to psychological decline and behavioral symptoms (Huntington’s Society, 2013). Symptoms are similar to what is seen with Parkinson’s disease, nevertheless they vary between different individuals and its progression is almost always foreseeable. Those who are suffering from Huntington’s often see symptoms anywhere between the ages of 30-50, however it has been seen in individuals as young as two and as old as 70( Huntington’s Society, 2013). Along with the progression of the disease the severity of the symptoms increase and can be separated into three different stages. In the first stage there are usually slight uncontrolled muscle movements, lack of concentration and mood changes. As the severity worsens they may need assistance proceeding with everyday activities such as walking talking and even swallowing. Irregular jerking movements of the limbs are more consistent and more noticeable to others. In
Huntington’s disease was named after George Huntington a physician in America. He was able to shed light on the diseases observable appearance and how it is inherited in a paper he wrote about the disease.
Most people who are affected with Huntington’s disease have the same physical type of effects. They usually have very random and jerky motions that they cannot control. They also
Huntington’s is a hereditary disease. A crucial part of the diagnosis process is to take a family history. The most efficient way to determine if the individual has this disease would be a DNA determination, showing a CAG repeat of at least 36 on the huntingtin gene that is located on chromosome 4. In most cases, the three main signs of this disease is present in the individuals. More studies are known to use biomarkers to determine the parameter’s as well. More studies are starting to focus on changes in function and changes in the brain images by the use of an MRI. Earlier we stated on how a prominent sign of this disease would be motor dysfunctions, such as chorea. Chorea is due to neurological damage in the brain resulting in altered gait.