Tay Sachs Disease Research Paper

TSC is caused by a genetic mutation in the TSC1 or TSC2 gene. The mutations in these genes cause several lesions in the body to appear. This is caused by the excessive

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

B) Differences between the symptoms of Tay-Sachs and Fragile X as well as the treatments or interventions.

Tay Sachs can only be inherited, which means it is passed from parents to child only. The process begins in the fetus, very early in pregnancy. However, the disease does not become physically apparent until the child is several months old. Tay Sachs is caused by the absence of a vital enzyme, called the Hex A gene, which is in chromosome 15. This gene plays an important role in the nervous system. It breaks down the fatty substance called

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

Well what causes Tay Sachs disease is that there’s something wrong with there fifteenth chromosome with this problem your body has trouble making the protein hexosaminidase A, since your body doesn’t make that anymore gangliosides build up and eventually will kill brain cells. In order for your child to get this disease the defective gene has to be passed down from each parent so that would mean that Tay Sachs disease is a heredity disease. If the defective gene just gets passed down from one parent it means that the child is a carrier of Tay sachs disease, in which this means that if this child marries someone who is also a carrier of Tay Sachs disease that means that there child will absolutely have this disease

It became known that it was a genetic mutation on the HEXA gene on chromosome 15 that caused the disease. he HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme in the lysosome (works to destroy toxins and recycles waste) breaks down fatty structures, GM2 Gangliosides. When the gene mutation is visible, a defected beta-hexosaminidase A and they can’t properly break down the gangliosides. The buildup of gangliosides reach toxic levels and provide damage around the brain and spinal cells. They destroy the neurons around those areas, causing Tay-Sachs symptoms to become apparent like bad coordination and mental problems There are a large number of HEXA mutations discovered to be responsible for the Tay-Sachs. The mutations include base pair insertions and deletions, splice site mutations, point mutations, and other complex patterns. Each mutation alters how the protein works to produce, and overall alters the enzyme's

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 is a disease in the nervous system. It mainly occurs in infancy, and the infant can appear normal until ages 3-6 months when their muscles for movement weaken and development slows down. Affected infants with Tay Sachs disease loose motor skills such as sitting, crawling, and turning over, and in some cases develop an extreme startle reaction to loud noises. As this vigorous disease advances, children distressed can experience paralysis, intellectual disability, seizures, hearing and vision loss, and an eye abnormality called a "cherry-red spot." Most children afflicted usually only live into early stages of childhood.

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

In order for Tay-Sachs disease to be relevant the Hexosaminidase-A (Hex-A) enzyme is either defective or absent. This enzyme is needed to survive because it helps breakdown specific substances such as fats. The massive build-up of lipids called gangliosides affect the central nervous system, which eventually starts to destroy the cell and damages the tissue around it. Most people working in the medical field would define that occurrence as an “abnormal storage”. In order for the child to inherit this disease, both parents must be carriers. However, statistically it is stated there is only a 25 percent chance of the child to be affected if both parents are carriers. The child also has a 50 percent chance of becoming a carrier

Have you ever thought about being a baby and then dying because you could not lift your arm or if you could not chew to eat? Tay Sachs disease is a genetic disorder that cause five year death penalty. Before you are born Tay Sachs is where your 15th chromosome is broken and can not cover itself up. The first physical symptom to appear when born is to have a red dot on the inside of your eye, from there it get worse until after five years they could be paralyzed and lose all hearing and vision. There is no cure or way to deal with Tay Sachs. Discovered first by Warren Tay on Accident he was a british ophthalmologist specialist in the branch of medicine concerned with the eye. Warren had started his research when he had a patient with

Prenatal testing, if both parents are identified as carriers, prenatal genetic testing can be done to determine if the fetus has inherited the defective gene copy from both parents. The testing is usually done between 10-14 weeks. The risk for miscarriage is 1% or less. The preimplantation genetic diagnoses involves gathering the mother’s egg for in vitro fertilization. The egg can then be tested and a healthy egg is implanted into the womb, and unhealthy embryos are discarded. This type of testing has also been successful in testing for cystic fibrosis, and sickle cell anemia to name a few. The last approach is the mate selection process. The Orthodox Jewish community forms an organization called the Dor Yeshorim. The purpose of this organization is to do anonymous screenings so that couples with Tay-Sachs disease or other genetic disorders can avoid conception

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.