This website uses cookies to ensure you have the best experience. Learn more

What Is Tay Sachs Disease? Essay

758 words - 3 pages

What Is Tay-Sachs disease?Tay-Sachs disease is a fatal inherited disease of the central nervous system. The most common type of the disease affects babies. Affected babies appear healthy at birth and seem to develop normally for the first few months of life. After this time, development slows and symptoms begin. Sadly, there is no effective treatment for these babies. Babies with Tay-Sachs lack an enzyme protein called hexosaminidase a hex A needed for breaking down certain fatty substances in brain and nerve cells. These substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working. Symptoms of classical Tay-Sachs disease first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out and, eventually, becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 5.Who has a high risk of getting the disease?Tay-Sachs disease occurs most frequently in descendants of Central and Eastern European Jews. One of every 30 American Jews carries the Tay-Sachs gene. Some non-Jewish individuals are at and increasing risk of getting the disease, especially the kids.How is the disease transmitted?Only through heredity information, which means you have to get it from your mother and father. A Tay-Sachs carrier has one normal gene for hex A and one Tay-Sachs gene. The carrier does not have the illness and leads a normal, healthy and full life. Which means when two carriers become parents. There is a one-in-four chance that any child they have will have the Tay-Sachs gene from each parent and have the disease. There is a one-in-four chance that the child will have the normal gene from each parent and be completely free of the disease and the Tay-Sachs gene. There is a two-in-four chance that the child will have one of each kind of gene and be a carrier like the parents and free of disease. If only one parent is a carrier, none of their children can have the disease, but each child has a 50-50 chance of getting the Tay-Sachs gene and being a carrier.Is there any treatment for Tay-Sachs?Tragically, there is no cure, and no treatment...

Find Another Essay On What Is Tay-Sachs disease?

Tay-Sachs Disease Essay

716 words - 3 pages Tay-Sachs disease is a genetic disorder, eventually leading to death of the inflicted. Genetic diseases have to do with mutations in one or more than one of the genes located on a person’s chromosomes. In the case of Tay-Sachs, it is a mutation of an autosomal chromosome, specifically chromosome #15 (ncbi.nlm.nih.gov). The mutated gene is the Hex-A gene, which codes for the production of the enzyme beta-hexosaminidase A (see picture A

Tay-Sachs Disease Essay

1667 words - 7 pages her eye and ordered genetic testing, which confirmed the diagnosis of Tay-Sachs disease. The family was told that there is no cure for this progressive genetic disorder, and in the months that followed, they could only keep Ashley comfortable as her symptoms slowly worsened with regular seizures, inability to move, and inability to eat, until her death just shy of her second birthday1. Background Disease Etiology Tay-Sachs disease (TSD) is

Pathology of Tay Sachs Disease

1655 words - 7 pages TAY-SACHS DISEASE The disease is named after Warren Tay (1843-1927), a British ophthalmologist and Bernard Sachs a New York neurologist. Warren Tay discovered a patient with a cherry- red- spot on the retina of the eye which has become a clear signal of Tay-sachs disease. Later on Bernars Sachs described the cellular changes in Tay-Sachs disease. Tay-Sachs disease is a rare autosomal recessive genetic disorder that gradually destroys

What is Hodgkins disease?

1323 words - 5 pages What is Hodgkin's disease?Hodgkin's disease is a type of lymphoma. Lymphomas are cancers that develop in the lymphatic system, a part of the body's immune system. The job of the lymphatic system is to help fight diseases and infection.The lymphatic system includes a network of thin tubes that branch, like blood vessels, into the tissues throughout the body. Lymphatic vessels carry lymph, a colorless, watery fluid that contains infection-fighting

What is Alzheimer´s Disease?

1445 words - 6 pages are critical for understanding any memory loss. If reduced memory is impacting your everyday life, it is time to learn why. What is Alzheimer’s disease? Alzheimer’s disease (AD) is defined as a condition that causes abnormal deterioration in the brain mainly affecting memory and other mental abilities during middle or old age1 and is the most common type of dementia. The disease progresses from mild memory loss to extensive neurological

What is Parkinson´s Disease?

1190 words - 5 pages diseases and it is important to inspect the neural structures that are affected as well as the possible pathogenesis, in order to determine what the syndrome may be. Parkinson’s disease (PD) is a progressive syndrome of the CNS that plagues the elderly and has been seen to be more prominent in the male population than the female population (Lees et al., 2009). This disease is a challenging and pervasive syndrome and unfortunately, there are not any

What is Motor Neurone Disease (MND)?

2634 words - 11 pages What is Motor Neurone Disease? According to Talbot et al. (2010), Motor Neurone Disease, which is also known as MND, is when progressive degeneration occurs in the motor neurones of the brain and the spinal cord. Motor neurones are nerve cells that control the muscles in the body. They also stated that as the progressive degeneration occurs of these muscles, messages to the muscles stop working which leads to the muscles then becoming weak and

What is the disease Amyotrophic Lateral Sclrosis?

975 words - 4 pages What is the Disease?ALS is an extremely deadly disease affecting the nerve cells that control the victim's voluntary muscles. These nerves shrink and eventually die, leaving the muscles without stimulation. As these muscles go without stimulation, they too eventually shrink and die. The victim progressively weakens to the point of complete paralysis of all voluntary muscles and some involuntary muscles, such as breathing and swallowing, and soon

Diverticular Disease: What is the difference between diverticulosis and diverticulitis?

549 words - 2 pages When pockets develop in the wall of the colon, this is called diverticulosis. The pockets that form are called diverticula; the pockets pick up fecal matter as the body’s waste is propelled through the colon. Diverticulosis and diverticulitis are classified as diverticular disease. The main difference between diverticulosis and diverticulitis is that there is no inflammation, and with the second there is. Approximately 80 percent of the

WHAT IS MENIERES DISEASE AND WHAT IS THE BEST WAY TO TREAT IT?

1715 words - 7 pages balance, especially when it is dark (menieres australia, 2013). WHAT CAUSES MENIERES DISEASE? Scientists do not fully understand the cause of Ménière’s disease however it is thought to be due to changes in the fluid pressure in the labyrinth. The labyrinth is a system of narrow fluid filled tubes and it is believed that fluid builds up in the tubes of the inner ear and increases the pressure inside them. Covering the membrane of the labyrinth are

WHAT IS MENIERES DISEASE AND WHAT IS THE BEST WAY TO TREAT IT?

2618 words - 11 pages 2013]. knott, D. L., 2012. meniers disease. [Online] Available at: http://www.patient.co.uk/health/meniere's-disease-leaflet [Accessed 23 12 2013]. knott, D. l., 2012. Tinnitus. [Online] Available at: http://www.patient.co.uk/health/tinnitus [Accessed 22 12 2013]. MacGill, M., 2013. What is vertigo? Causes, diagnoses and treatment. [Online] Available at: http://www.medicalnewstoday.com/articles/160900.php [Accessed 22 12 2013]. medical devices

Similar Essays

What´S Tay Sachs Disease? Essay

2110 words - 9 pages Tay-Sachs Disease Tay-Sachs disease, while incredibly destructive to those it effects, is still a lesser-known issue. With around 16 cases of Tay-Sachs diagnosed each year, few know just how it occurs and what it does. Tay-Sachs is a progressive disease that eradicates nerve cells in the spinal cord and brain, causing paralysis and loss of motor functions. It almost always results in the death of the affected. The disease is found in a

Tay Sachs Disease Essay

1131 words - 5 pages There are many different types of mutation diseases that exist in the world. A commonly known mutation disease is Tay – Sachs Disease. Tay- Sachs Disease is rare disease that demolishes neurons in both the brain and spinal cord. The central nervous system is obliterated as a result (Genetics Home Reference, 2012). People with Tay- Sachs disease have muscle weakness, loss of motor skills Seizures, vision and hearing loss, paralysis, and

Tay Sachs Disease Essay

1246 words - 5 pages Imagine that there is a disease that is terrible and causes trouble for you every day, there is no cure, there is only the dragging on of day after day. This is Tay Sachs Disease, it is a disease that is lifelong, that is, unless it kills you early on in life. This disease has lots of symptoms which are a result of how the disease affects the brain and its functionality. This disease is an inherited disease, and is known as a serious genetic

Tay Sachs Disease Essay

674 words - 3 pages Tay- Sachs is a genetic disease that is located on chromosome 15. It occurs when the body lacks a protein that helps break down nerve tissues. It was discovered by Dr Waren Tay, and Dr. Bernard Sachs. Dr. Bernard Sachs, a neurologist, uncovered the first description of the cell changes in Tay- Sachs. He also discovered the pattern of the possibility that Tay-Sachs could be passed down through family links, more commonly (at the time) of those in