Analysis Of Tay-Sachs Disease

Cherry red spot” in the eyes Infant with Tay Sachs Disease If two parents are carriers for

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

Tay-Sachs disease is a rare genetic disorder that destroys the nerves of the brain and spinal cord (the neurons). Tay-Sachs is usually discovered during infancy, the child appears to be on track and developing normal until the first signs of symptoms become apparent. The children typically do not live past the age of 5 due to many symptoms of the disorder/disease. However there have been individuals with Adult Tay-Sachs Disease (ATSD) and Late Onset Tay-Sachs disease (LOTS) in which they develop mild symptoms later on and worsen throughout the years. The symptoms include: loss of motor skills or muscle movement, vision and hearing loss, intellectual disabilities and dementia, and even can cause paralysis. The most common way to notice a child

About one in every 36,000 children of Ashkenazi descent will have Tay Sachs (Gale). Tay Sachs is a nerve disorder that attacks mainly younger children and will eventually cause the body to stop functioning properly. This takeover of the nerves will cause death at an early age. There is currently no cure for the disease, but there are many options for treatments and coping.

Tay-Sachs disease is a rare genetic disorder. Nathan Harney was only 10 months old when he was diagnosed with this fatal disease. At an early age, he started to lose his skills and had consistent seizures. He couldn’t walk, sit, or stand on his own. During a careful eye examination, Nathan’s doctor found a cherry red spot in his eye which led him to the conclusion that he suffered from Tay-Sachs. Later, after he had genetic testing, Nathan was officially diagnosed with the genetic disorder Tay-Sachs. Sadly, Nathan passed away on June 18, 2015 at the age of four (Aaron and Kathryn Harney, 2011).

The genetic mutations that cause this disease are more commonly found in the Ashkenazi people with a Jewish heritage than those with other backgrounds. French-Canadian communities of Quebec, the Old Order amish community in Pennsylvania, and the Cajun population of Louisiana, are more responsible for the mutation for this disease. The HEXA has been discovered for the cause of Tay Sachs. The gene provides for making part of an enzyme, which is cause, "beta-hexosaminidase A", which plays an important role in the spinal cord and brain. Disruptions in the HEXA gene messes with the activity of beta-hexosaminidase A, and then prevents the enzyme from breaking down GM2 ganglioside. This results the the substance accumulating to toxic levels in the neurons in the brain and spinal cord. Continuous damage caused by the build up of GM2-ganglioside leads to the destruction of the neurons and thus causes the signs and symptoms of Tay-Sachs

This disease causes the deterioration of the nerve cells and physical state for the first 6 months. Some symptoms during the infantile stage are blindness, deafness, and the inability to swallow. Sometimes the infant could be born paralytic. At juvenile age, the child may experience cognitive and motor skill deterioration. Motor speech, muscle movement, and swallowing are all non-apparent in the juvenile. Genetically, Tay-Sachs disease is caused by the HEXA gene. This gene provides instructions for making enzyme, beta-hexosamindase A, which is essential in brain, nerve, and spinal cord development. Mutations in this gene cause the beta-hexosamindase A from breaking down GM2 ganglioside which results in the accumulation of gangliosides in the brains nerve cells, thus causing Tay-Sachs disease. Tay-Sachs develops when very harmful gangliosides collect in the brains verve cells which ultimately result in death of the cells. Tay Sachs can be identified as a cherry-red spot located on the nerve

Tay-Sachs disease is a genetic disorder which results in progressive destruction of the nervous system. Children are the most common victims of the disease. In the general population, Tay-Sachs itself is rare. Tay-Sachs disease is most commonly found in people of east and central European Jewish descent, French-Canadian communities of Quebec, Cajun population of Louisiana, and the Amish. Mutations in the HEXA gene are the cause of this disease. This can happen in Prophase one of Meiosis due to the crossing of the sister chromatids in tetrad form may have mutated the chromosome encoding all the info for the Hexa gene. The HEXA gene gives instructions to make part of an enzyme called beta-hexosaminidase A. Alterations in the HEXA gene may damage

Tay-Sachs sickness is an entangled and uncommon malady that happens when there is transformation in the DNA. This change does not permit the body to create 'Hex-A', which is basic to separating greasy mixes. Without this chemical, cerebrum and nerve harm can happen. Tragically this ailment has no treatment arrange and normally by 10 months of age, the youngster may encounter visual deficiency, seizures and be formatively postponed. The visualization is tragic: the kid will once in a while live past 5 years of age. The reason the youngster has this malady is on account of it is acquired. Either one or both of the folks are a transporter of this genotype that when communicated in posterity brings about Tay-Sachs. In the event that both folks

The body is a very diverse and complex system. Tay-Sachs disease can be a very scary but rare illness. Tay-Sach’s is a genetic disease which causes destruction to vital body systems, such as the brain and spinal cord. The invisible disease at first, begins within the fetus at early stages of pregnancy. Up until the age of 6 months, this death causing disease is imperceptible.

Tay-Sachs disease got its name from Warren Tay and Bernard Sachs. Warren Tay was a British ophthalmologist who first discovered a cherry-red spot on the retina of the eye. Bernard Sachs was a neurologist from New York who later discovered and described the cellular changes of the disease. Not only did Sachs become the first person to recognize the cellular changes, but he was also able to see that the disease was most common amongst families .

There are so many deadly diseases that live among the human population, some rare others common, some curable and untreatable . Sandhoff and Tay- Sachs are among these rare and untreatable diseases. Sandhoff and Tay sachs are allied disease that causes destruction of nerves in the brain and spinal cord causing a number of harmful symptoms and effects. The lack of the Hexosaminidase A and Hexosaminidase enzyme causes many problems for its host because it is necessary for breaking down wastes within the brain (“https://ghr.nlm.nih.gov/gene/HEXB” 1). These diseases are very hard to live with and those diagnosed live only a few years after the age they are diagnosed. To help parents prepare for this disease ahead of time there needs to be a required

Symptoms of Tay Sachs disease is muscle weakness, lacking of muscle coordination, movement issues, problems with speech, and mental issues. The disease is caused by mutations in the HEXA gene. The HEXA gene is responsible for making a part of an enzyme called beta-hexosaminidase A which is located in lysosomes and plays a key role in the brain and spinal cord. The enzyme helps break down a substance called GM2 ganglioside. The mutation will keep the enzyme from breaking down the GM2 and the substance builds up to toxic levels mostly in neurons in the brain and spinal cord. As the GM2 substance builds up even more, the neurons are destroyed and symptoms began to show.

A concept that supports the foregoing claim is the fact that genetic engineering in humans can help diminish and forestall congenital conditions. Moreover, many illnesses give individuals the demand to receive organ transplants; with organ transplants, their well-being would then be reimposed. Over one hundred and sixty thousand individuals in the United States need to receive a specific type of organ transplant named xenotransplantation, or organ transplants from other animals (Siedler 20). However, the predicament that comes with the procedure is the body’s defense mechanisms toward the foreign tissues of the animals (Siedler 20). Genetic engineering would be the resolution to this dilemma - the cardinal gene that causes the resistance could be deleted, and more human

Sandhoff disease is a severe form of Tay-Sachs disease but Sandhoff disease is not limited to any ethnic group. Onset of the disorder usually occurs at six months of age, infant’s present normal for the first three to six months of life. Neurological symptoms may include progressive nervous system deterioration, problems initiating and controlling muscles and movement, increased startle reaction to sound, early blindness, seizures, spasticity, and myoclonus.3 Other symptoms may include macrocephaly, cherry-red spots in the eyes, respiratory infections, doll-like facial appearance, and an enlarged liver and spleen. The defective gene is passed by each parent who must be a carrier of the disease. However, if one parent is a carrier of the disease,