Tay sachs, a horrible and disgusting disease, is also very interesting due to the fact of of races in which it occurs, how many mutations lead to it, tests for it, and the inheritance patter. Furthermore, tay sachs also takes the lives of innocent children and depresses parents for the rest of their lives. So, what makes this disease so interesting?
There are many types of diseases, which are considered a genetic disorder, Tay sachs disease being one of them. A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. These types of abnormalities can range widely from a small mutation located in a single gene all the way to the addition or subtraction of an entire chromosome or set of chromosomes. Furthermore, tay sachs is considered a disorder because of the fact that tay sachs destroys nerve cells in the brain and spinal cord. In addition people with tay sachs have a defective gene called hexosaminidase A (HEX A), Hex A is a subunit of an enzyme that plays an important role in brain and the spinal cord. The enzyme helps break down toxic substances and breaks down a fatty substance by the name of GM2 ganglioside. Hex A being defective, results in an abnormality in the breakdown of lipids and which then results in the toxic accumulation of GM2 ganglioside in the spinal cord and brain. Tay sachs disease most commonly occurs in infants and the symptoms usually occur during their 3-6 months of age. These symptoms include the slowing down of development and muscle weakness which results in movement difficulty. Further symptoms include seizures, vision and hearing loss, paralysis, and intellectual disability.Additionally, tay sachs leads to death in early childhood. Besides that, tay sachs also include a p...
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...t options. Even though all these treatments do help to manage the disease, none of them actually cure, and the horrible disease still takes the lives of innocent people.
In conclusion, tay sachs truly is a horrible disease, but it is also a very interesting one. Tay sachs is extremely horrible due to the fact that it kills children and makes them suffer by losing muscle strength, brain capabilities, vision, hearing, and many other symptoms. However, it is also very interesting in the way it occurs by a defective gene. In addition, it is also remarkable on how it mostly occurs in one race because of the conditions the race faced. Tay sachs is still a fairly young and un researched disease that there is still yet to be found cures and treatments, but when these treatments come to reality everyone is going to see this disease as an incredible and interesting disease.
Nagami also had to deal with the limits of medicine in dealing with her cases. The chapter dealing with AIDS, chicken pox, subacute sclerosing panencephalitis displayed the limits of medicine. In each of these cases the patients involved died even though Dr. Nagami and her colleagues tried to prevent their deaths. In the case of AIDS and the encephalitis advances have been made in treatment of the disease since Dr. Nagami first encountered them. At the time of the cases however there was very little that could be done to save the patients. Some cases like the chickenpox simply overran the body and any treatment that was
Due to this disease the body is slowly broken down by affecting the central nervous system of a person’s body. The children depicted in the essay are probably an example how fellow human beings should be around a disabled person. They just view the disabled person as another human being and respect them the same way. The children are proud to associate themselves with Mairs and do not shy away from introducing her to the general public. This is what a disabled person requires: that all those around him or her should respect them for what they are and give them unconditional regard
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.
It needs to be understood that it is as natural as cancer or AIDS, but can be worse and a living hell for those who are the victims of this illness, and not treated in time. When we can give all the care and attention to other medical problems, and can go campaigning for them; then its time to look at this aspect of illness with same enthusiasm. We cannot afford to neglect this illness. We need more voluntary involvement, and have a better infrastructure developed to build a better future for every person who is suffering, and who is prone to suffer with the current mode of life of high stress and competitions.
Tay-Sachs disease is a rare and fatal genetic disorder that destroys neurons in the brain and spinal cord. The disease appears in three forms, Juvenile Onset, Late Onset (known as LOTS), and the most common form, Infantile (also known as Classic). The differences between the three forms of the disease are related to the age at which the symptoms of the disease begin to form. Tay-Sachs results from a deficiency of the enzyme hexosaminidase A, which plays a vital role in removing a fatty substance, called GM2 gangliosides, from neurons.
Tay-Sachs disease is a neurodegenerative disorder that is known to be genetically inherited. Both children and adults may suffer from this neurological disease, but it is most common in children (Percy, 1999). This disease causes abnormal brain development in individuals who are affected by this disease. This disease is known to get progressively worse, and unfortunately leads to death. Due to the rapid progression of this disease, the life expectancy is no more than five-six years of age due to complications related to the disorder (Percy, 1999).
...s course because it helps to increase awareness and sensitivity to those with disorders and diseases. The book helps the reader better understand the challenges such individuals have to overcome. In addition, Fox’s humorous nature presents challenges brought on by his disease at a unique angle so the reader can see both the demanding affects it brings and the many opportunities that are available to affected individuals.
Chronic Wasting Disease is a highly transmissible, deadly neurodegenerative disease that affects cervids in North America (Belay et al., 2004; Saunders et al., 2012). There are only four types of cervid that are known to get this disease which include elk, mule deer, white-tailed deer, and moose (Chronic Wasting Disease Alliance). It has been classified has a transmissible spongiform encephalopathy (TSE), otherwise known as a prion disease (Belay et al., 2004). A prion is an irregular, pathogenic agent that causes abnormal folding of specific proteins called prion proteins. These proteins are mostly located in the brain (Chronic Wasting Disease Alliance). The abnormal folding of this protein causes neurodegenerative diseases in a variety of species including humans, sheep, cattle, and deer (Abrams et al., 2011).
Retinitis pigmentosa is a genetic disorder that causes blindness in the people that are affected by it. I chose retinitis pigmentosa because my grandmother has this genetic disorder. The disorder is very costly on those who have it. The disorder has robbed my grandmother of the life she wanted. She is no longer able to do the things she once was. She is legally blind, cannot drive, and has trouble getting around crowded areas. Retinitis pigmentosa was discovered by Doctor Donders in 1857. Retinitis pigmentosa is a very serious disorder in how it occurs, its signs and symptoms, its prevalence, and how its treated.
Parkinson disease (PD), also referred to as Parkinson’s disease and paralysis agitans, is a progressive neurodegenerative disease that is the third most common neurologic disorder of older adults. It is a debilitating disease affecting motor ability and is characterized by four cardinal symptoms: tremor rigidity, bradykinesia or kinesis (slow movement/no movement), and postural instability. Most people have primary, or idiopathic, disease. A few patients have secondary parkinsonian symptoms from conditions such as brain tumors and certain anti-psychotic drugs.
Medical history has been filled with an array of diseases and illnesses, ranging from the common cold to deadly killers. Some are easily treatable and others can be terminal, but some of the worst are those that still remain without a cure; one such disease is amyotrophic lateral sclerosis.
"Treatment." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 20 Dec. 2013. Web. 23 Jan. 2014.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Like the world around us the medical field is always changing. It is always pushing forward, trying to understand mysteries of the human body that have boggled researchers for decades. What confuses scientists more, are the organisms or conditions that create these abnormalities that can send the human body into a downward spiral. Disease is something that has affected human civilization since the dawn of time. It can either be chronic or acute, but in either case it has the potential to bring havoc to the human body systems that can lead to devastating consequences. Generally there are two main types of diseases, ones caused by invading pathogens and those which are hereditary. One hereditary disease that can be particularly tragic is cystic fibrosis.
Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.