Tay-Sachs Disease Research Paper

There are many diseases in the world that can have severe negative impacts on a person and their family. Many neurodegenerative diseases are caused by genetic mutations. This essay will be discussing the similarities and differences between the diseases of Tay-Sachs, Alzheimer’s, Parkinson’s and Fragile X as well as their symptoms, treatments and intervention strategy’s.

Tay Sachs is an incurable genetic disease that affects the central nervous system. It is a rare disorder that occurs chiefly in infants and children, especially those of the Jewish heritage. It is characterized by a red spot in the retina, paralysis, gradual blindness, and loss of muscle movement.

There are no treatments or cures for Tay-Sachs disease; however, through palliative care,  treatment is used to keep the child comfortable. Palliative care often includes prescription medication to relieve symptoms, the use of feeding tubes, physical therapy, and respiratory care to avoid issues with the lungs and airways.

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

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).

"Children with Tac-Sachs disease often die by 4 despite the provision of best available care. Their seizures worsen, and eventually fall into an unresponsive vegetative state.

Hello, Im Dr. Flores. I'm sorry but we believe that your child may be at risk to having Tay-Sachs Disease also known as GM2 gangliosidosis. She does not roll over like most babies, a little weak, and exaggerated responses to sudden noises, and both of you are of eastern and central European Jewish heritage which puts you at a higher risk to having Tay-Sachs. We’re gonna run a few test to confirm if your daughter has it…We’ve received the results back from the lab and i'm sorry to say but you're daughter has Tay-Sachs disease, Some of our test consisted of testing responses to sudden noises and checking for red spots at the back of the eyes. Which your child presented with as you can see in this image.Also blood tests to check if the body is producing the Hexosaminidase-A enzyme or Hex-A for short.

As a Tay-Sachs genetics counselor waiting for the arrival of my next family session, I would have to prepare by reviewing their medical file. In the file, I would be reviewing the date of birth of the child at the time of the session. Age is very important to help identify the current symptoms the child may be exhibiting and upcoming symptoms. Observed symptoms of Tay-Sachs disease in infants can be muscle weakness or paralysis, seizures, respiratory distress, loss of hearing or deafness, exaggerated startle response to sound or light, and a red spot which is located on the macula in the child’s eye. Progression of the disease is rapid and most infants will have passed by the age of 5. Discussing hospice and hospice counseling along with offering

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.

Tay-Sachs disease is an autosomal recessive disease. Tay Sachs disease can be attributed to the inhibited activity of the hydrolase enzyme b-Hexosaminidase-A (HEX A). The Hex A gene is on the q arm of chromosome 15. When mutated the breakdown of ganglioside from disialotetrahexosylganglioside (GM2) to monosialodihexosylganglioside (GM3) is defective. This results in a buildup of GM2 in the lysosomes in nerve cell. These lysosomes swell in size and can rupture resulting in many neurological defects and hepatosplenomegaly. The accumulation and burst of the lysosome manifest itself in three different, but categorically similar ways depending on the type of mutation in Hex A. While many therapies are in clinical trials most of the treatment options are done just to treat the symptoms of Tay Sachs because no cure exists.

The rate of Tay – Sachs disease is high amongst Ashkenazi Jews. In United States, 1 in 27 Ashkenazi Jews is a recessive carrier. French Canadians and the Cajun community of Louisiana have an occurrence similar to the Ashkenazi Jews. Also Irish Americans have 1 in 50 chance of being a carrier. In general population of the United States the incidence is approximately 1 in 320000. (Frisch,

ALS, or amyotrophic lateral sclerosis, is a disease that damages motor neurons in the brain and spinal cord. It is a deadly disease that cripples its victims due to breakdown in the body’s motor neurons. Motor neurons are nerve cells that control muscle movement. They are important part of the body’s neuromuscular system. The neuromuscular system allows our bodies to move and is made up of the brain, many nerves, and muscles. People that are diagnose with ALS disease causes for the motor neurons in the brain and the spinal cord to shrink and disappear, so that the muscles no longer receive signals to move eventually causing the muscles to become smaller and weaker. Slowly the body becomes paralyzed, which means that the muscles no longer function. The average life expectancy for a person that has ALS after being

Recognized as the terrifying and somewhat infrequent hereditary disease that plainly terminates your entire nervous system, Tay Sachs Disease normally appears all of a sudden and this is because of the enzyme beta-hexosaminidase A is not present in the body. People stricken by Tay Sachs Disease suffer a breakdown of their brain cells due to the body collecting fatty composites in the brain cells and tissues.

The members will be a physician, a geneticist, an ethicist, a lawyer and a nurse. The physician, who is a pediatrician, makes the diagnosis of Tay Sachs. The geneticist, another specialist, provides more specific and applicable information on Tay-Sachs, such as causes and risks, prevention, diagnosis and treatment. These two specialists formulate a plan of care, which a nurse will implement. The ethicist informs them about accepted moral values and the proper human conduct, behavior and decisions in dealing with Tay-Sachs. The lawyer or legal practitioner informs the involved parties about the current laws and court decisions concerning or affecting the management of genetic disorders, such as Tay-Sachs. And the nurse carries out the detailed instructions of the geneticist and pediatrician as well as incorporates the guidelines inputted by the lawyer.