Even in my earliest memories of my uncle, Dennis Inman, I cannot recall him ever being still. Dennis had a genetic disorder called Huntington’s Disease, which robbed him of his ability to control his muscle movements. Over the course of my life, I have witnessed him progress from a muscle tic to violent convulsions that wracked his body. For years, my greatest wish in this world was for my uncle to be still, even if it was just for one moment. The day before Christmas Eve of 2016 I got my wish. At 6:00 A.M. on that oddly warm December morning the melody of my phone’s ringtone began to resonate through my bedroom, stirring me from my sleepy state. I do not quite remember answering the phone call, in fact, much of that morning was a blur of images and sounds in my mind. However, I do remember my irregular, strangled breathing as I attempted to dress with clothes I had found crumpled on the wooden floor of my room. Soon, I found myself in a car filled with maddening silence. The car ride was so quiet …show more content…
I heard the last shallow gasp enter his lungs, and then his chest collapsed. The pinkish tinge of his skin seemed to instantly fade to an ethereal, ashy gray. I suddenly wished for the incessant beeping of the machines to return, but I knew that it would not. I was not aware that I was crying until the salty liquid found its way into my mouth. I had finally gotten my wish. Dennis Inman was still, and he would remain still. At first, I did not wish to enter, but now I did not wish to leave that hospital room, because I knew I would never see my uncle again. It seemed wrong to leave a family member in a strange place all alone. Would the hospital take care of him? Would they be gentle? But, I did walk out of that hospital room, and I had developed a new perspective on life. I realized that life has a sick sense of humor. I made a vow that Christmas that I would never wish for something ever
Our bodies and the functions of our body parts work in cohesion. Some systems include but not limited too cardiovascular, urinary, respiratory, digestive, endocrine, reproductive, and most importantly the nervous system. The central nervous system consists of the brain and the spinal cord and the peripheral nervous system consist of all the nerves that branch off of the brain and spinal cord. With those systems we have the sensory division and the motor division also stemming from those we have the somatic and autonomic nervous system. For all these systems to work together in unison are cells called neurons. Neurons structure includes the cell body, dendrites which picks up messages and the axons which send
Huntington’s disease is a hereditary and progressive disorder that affects the neurons of the brain to deteriorate later in life in terms of cognitive and motor skills.
In the United States, approximately 30,000 Americans have Huntington’s disease. Huntington’s disease, also known as Huntington’s chorea, is an autosomal dominant disorder that causes selected neural cell death. With this disease comes concerns regarding what the disease is, its history, and it symptoms. In addition to those components, its stages, diagnoses, and treatments are of great importance as well.
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.
What is huntington's Disease? How can I get it? Should I be tested? Is there a cure? These are all really good questions a lot of people would ask about Huntington's Disease. Huntingtons Disease is a brain disorder in which you get from genetics. This means you can only get this disease if somone in your family has had it. Usually you start seeing the symptoms from the ages of 30-50. Huntington's Disease is deadly. I am 30 years old and my father had this disease. Should I get tested for it?
HD is a rare, progressive neurodegenerative disease which usually manifests itself between 30 and 45 years of age . It's characterised by a loss of motor control, jerky movements, psychiatric symptoms, dementia, altered personality and a decline in cognitive function. As the disease is adult onset, many people have already had children before they are diagnosed and have passed the mutant gene onto the next generation. In 1983, a genetic marker linked to HD was found on Chromosome 4, making it the first genetic disease to be mapped using DNA polymorphisms. However, the gene was not finally isolated until 1993
Most of the carriers of Huntington disease are usually childhood victims (Donaldson, Marsden, Schneider, & Bhatia, 2012).
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.
I have picked Huntington’s disease to write my paper on. This disease is known to affect the nerve cells in the brain. It slowly breaks them down, affecting a person’s thinking, movement, and can cause psychological disorders. There are several symptoms that come along with this disease, but they usually don’t show up until a person is in their 30s or 40s. The first signs that usually appear affect the physical, cognitive, and behavior of the victim. Though the behavior and cognitive symptoms aren’t as noticeable until later on, the physical symptoms are very obvious.
Learning about Huntington's disease was one my favorite things of my observership. because I was able to help the Dr. with its research about the disease, and observe the physical exam but most important see patients with the disease. I am from Maracaibo, Venezuela, and the city is know for the largest population with Huntington's disease, they call it "el mal del Sambito" because of the choreography like movements. It was very nice, being to relate to the disease somehow.
Imagine losing all mental functions like the ability to speak. Huntington’s disease does exactly that and other mental abilities. This genetic disorder affects the body in many ways including mental functions.
Huntington disease is known to be an inherited disease which is caused by a gene mutation called HTT. A child of a parent with Huntington disease carrier a chance of 50% of having inherited the disease. Huntington disease Symptoms usually begin from early 30’s to 50’s. These symptoms are loss cognition, uncontrolled movements and behavior changes. Since there is no cure for this disease yet many approaches such as Preimplantation and prenatal tests have been made to manage this fatal disease.
Huntington’s disease is caused by genetic mutation. The mutation occurs on the HTT gene; the HTT gene contains the DNA used to code for a protein called Huntingtin. The HTT gene is located on the shorter arm of the 4th chromosome. The protein, Huntingtin, is primarily used in neurons in the brain and is also found throughout the body.
I am interesting to learn more about the nerves system as a result for this assignment I have done my researcher about Huntington diseases. Huntington is a genetic disease that effect the brain and nervous system that result to insanity such as; uncontrolled movement emotional problem, and the ability of thinking (1998-. Huntington disease). The common type of Huntington disease shows up in the age of 30-40 years old person. The common and initial symptom may be involving irritability, the involuntary movement, depression, unable to coordinate, difficulty of making decision, and a poor condition of learn new issues. Patients that are diagnosed with Huntington disease are estimates that mostly survives about 15 to 20 years after staring up
Huntington’s disease is an autosomal dominant disorder in which cells of the brain deteriorate and eventually die. The disease does not currently have a cure. Currently, there are researchers studying the effects of mutations and possible ways to silence them. Antisense therapy provides a form of treatment for genetic disorders or infections. If a certain genetic sequence is known to cause a particular disease, the nucleic strand can be synthesized to bind to the messenger RNA (mRNA) produced to the gene to inactivate and thus silence the gene. Upon the expansion of the CAG tract in the huntingtin gene (HTT), a toxic huntingtin protein (HTT) forms with an elongated polyglutamine tract. Wild-type HTT is quite critical during the during early