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Tay sachs studies
Case study of tay sachs disease
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Being aware is the key to prevent any disease from developing. Because of the medical advancement we have today, the chance of getting infected with and developing diseases has decreased rapidly. However, just because the percentage has been lowered does not mean it is fine to forget about the existence of diseases. Are you aware of how many fatal diseases you can develop? The way you live and act can affect the possibility of you developing a disease, that you can prevent by being careful and consider about how you are living your life. However, the disease you possess in your genes passed down from past generations in your DNA cannot be changed. Another thing to be aware of is that genetic diseases are common to those who come from a general …show more content…
Tay-Sachs disease is passed down from generation to generation by a certain gene. It is associated with chromosome 15, known as the HEXA gene. You have 23 chromosomes in total, including the X and Y chromosomes. On chromosome 15, the DNA codes for an enzyme, which is a substance that allows you to speed up chemical reactions in your body, that breaks down unneeded substances from your body. This enzyme is called beta-hexosaminidase. This unneeded substance that this enzyme breaks down is a fatty substance called GM2 ganglioside. If the enzyme is able to break down this GM2 ganglioside in the lysosomes, an organelle in your body where the breaking down of this substance occurs, there is no problem. However, in the case of Tay-Sachs disease, there is a change in this enzyme which will destroy this process. The enzyme not functioning properly will result in swelling of your nervous system, which will later on lead to the death of nerve cells. The swelling will eventually reach the brain and spinal cord, resulting to damage them. By the brain getting damaged and not functioning well it affects the nervous system. Having dysfunction in their brain and spinal cord, the infant would not be able to survive for long. Even with help with force-feeding, respiratory care, and other ways in which the hospital does to keep the infant to be alive, it would not last for long. Due to the weakening of the infant’s immune system, they eventually get infected with other diseases which cause their
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.
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).
Imagine if you loss control of your body but your mind stayed unaffected. You would be a prisoner in your own body, all leading up to your death sentence. That is the sad fate for the people diagnosed with Amyotrophic lateral sclerosis (ALS). “Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder was first described by Ran in 1850. This description was then expanded in 1873 by Charcot, who emphasized the involvement of the corticospinal tracts. In the United States, ALS is often referred to as Lou Gehrig's disease, after the famous ball player who was stricken by the disease in the midst of his career. (Yale School of Medicine, 2014)” In this paper will go through the definition, the process, the signs, the risk factors, etiology, and discus the known people that have suffered with this terminal disease.
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Creutzfeldt-Jakob is a fatal, progrossive and incurable neurologic disorder which affects the brain in a destructive way. Globally, it attacks one person in every one million people. Specifically, at United State there are more than 300 cases per year. However, it is extremely complicated to diagnose, so the number of cases might get higher in the future. CJD (Creutzfeldt-Jakob disease) symptoms usually occur in later life for women and men whose ages are between 60 and 70. This essay displays a definition of Creutzfeldt-Jakob disease based on its identity, causes, symptoms, risk factors and treatment.
Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Amyotrophic Lateral Sclerosis is better known as ALS or Lou Gehrig’s disease. Amyotrophic Lateral Sclerosis was not brought to International or national attention until Famous New York Yankees baseball player, Lou Gehrig, was diagnosed with it in 1939. Jon Stone, the writer and creator of Sesame Street, was also diagnosed with Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis is very deadly and it physically handicaps a person as it progresses. There are two types of Amyotrophic Lateral Sclerosis, Sporadic and Familial. Sporadic is the most common cause in some cases and Familial is inherited, which is rare. Amyotrophic Lateral Sclerosis is one of the most aggressive muscular atrophy disorders, it has many signs and symptoms, and it can be treated but cannot be cured.
There are effective prevention and controlling the disease, however, a disease still stay a vital problem. For example, for diabetes especially type 2 diabetes can be prevented with managing a lifestyle and diet pattern changes in society. Individuals who are diagnosed with type 2 diabetes pancreas still works however not quite effective as it should be as the body built an insulin resistance which makes it difficult to change glucose into energy where too much glucose is left inside the blood. Managing a lifestyle pattern can modify a type 2 diabetes this includes eating a healthy diet, it is vital individual eat a healthy food such as by learning about the size of portion and counting a carbohydrate. Making a meal a well-balanced. An individual
From generation to generation diabetes has continued to claim lives on my mothers side of the family. From recent memory my great grandmother, aunt, and three cousins have had diabetes. Once a trait like diabetes enters your family it is passed down through genetics but it is also not guaranteed that all your family members will get it. You may be asking yourself what exactly diabetes is, what it does to your body and is their a cure? This disease affects us in many ways than one, as I will introduce to you.
...s of getting it. A risk factor is only anything that raises your chance in getting the disease.
...es of developing these diseases. While a family history provides information about the risk of specific health concerns, having a family history of certain medical conditions doesn’t mean that you will develop the same conditions. Disease is not imminent, by developing lifestyle changes your health can be controlled and risk lowered by changing behaviors that increase your chances.
Instead of waiting for a condition to arise in the human body, people should practice preventive care to maintain ideal health and prevent illnesses from occurring in the first place. Preventive care includes such things as immunizations and vaccines, routine physicals, regular medical checkups and periodic colonoscopies.
The social and economic impact of non-shared diseases threatens progress towards sustainable development. Uncommon diseases are the leading cause of death, resulting in 16 million premature deaths each year. The four major groups of extraordinary diseases - cardiovascular disease, cancer, respiratory illness and chronic diabetic - account for 82% of all non-fatal deaths3. By 2025, the global economic costs of four of these groups are expected to exceed $ 51 trillion. Despite the common belief that unidentified diseases are a "disease of prosperity" affecting only the populations of rich countries, the unknown diseases do not affect people in low-income and middle-income countries. The possibility of premature deaths due to unusual diseases in a low- and middle-income country is four times higher than in high-income countries. For young people, it is important to understand non-shared diseases and their risks. Two-thirds of adult deaths are related to childhood5 or youth behavior: over 150 million young people smoke, 5 81% of young people do not get enough physical activity, 6 11.7% of teens have episodic heavy consumption and 41 million Focused behaviors and unhealthy living conditions are assured that ill-health continues to affect
In the 1960s, doctors in the United States predicted that infectious diseases were in decline. US surgeon Dr. William H. Stewart told the nation that it had already seen most of the frontiers in the field of contagious disease. Epidemiology seemed destined to become a scientific backwater (Karlen 1995, 3). Although people thought that this particular field was gradually dying, it wasn’t. A lot more of it was destined to come. By the late 1980s, it became clear that people’s initial belief of infectious diseases declining needed to be qualified, as a host of new diseases emerged to infect human beings (Smallman & Brown, 2011).With the current trends, the epidemics and pandemics we have faced have created a very chaotic and unreliable future for mankind. As of today, it has really been difficult to prevent global epidemics and pandemics. Although the cases may be different from one state to another, the challenges we all face are all interconnected in this globalized world.
“Prevention is better than cure” preventing risk at the early stage is better than planning for it when it happens. There are several risk management tools such as Cause and Effect diagram, Fishbone