Tay Sachs Research Paper

ALS (Amyotrophic Lateral Sclerosis) or Lou Gehrig’s Disease is a classified as a degenerative neurological disorder that inhibits motor neurons in the spinal cord and brain to function properly. This disease eventually results in paralysis and imminent death over a period of time. ALS patients have anywhere from a few months, to a couple years to live after diagnosis since their nervous systems are slowly destroyed, rendering the body useless, and sustaining life impossible.

It affects the motor neuron from the brain to the spinal cord then spreads to all the muscles in the body. You will not be able to simply reach for a smartphone or pick up trash off the floor because your muscles do not function the same and may not function at all. If you acquire ALS you could have full body paralysis. There are two types of ALS out there. There is familial and then there is sporadic. Familial is the type of ALS that can be inherited and passed down by parents or grandparents. But this only happens about 5-10% in the United States. It can almost happen to anyone out there. There is a 50% chance that it can be passed down but it does not always come into effect. Then there is sporadic ALS. You get this by seriously injuring your head or maybe even just a slight hit and it was just right to cause it. This is the more likely type you would get. In the United States you they are 90-95% chance of getting due to a brain traumatic injury. ALS can cause problems to your speech. It could make you have vocal cord spasms and impaired voice. It can cause difficulty of swallowing and can make you drool. You could have substantial weight loss, problems breathing, and it is hard to do everyday things depending on how severe your diagnoses is. It is normally in people ages between 40-70’s. It has a 100% fatality rate and the numbers in the US fluctuate year to year but usually makes it up to about 20,000 people could get it at any time but NFL players and military are more likely to get it because of the brain trauma they have been

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

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.

Traumatic brain injury is any damage caused to the brain. Individuals with TBI may show aphasia-like symptoms, yet the characteristics of TBI include mostly cognitive processes deficits. Those characteristics include disrupt orientation, attention, memory, visual processing, and executive functions problems. Penitents with TBI experience a blackout that can last anywhere between a few minutes up to months and usually wake up confused and disoriented. They do not have any recollection of the events that occurred. In addition to the common characteristics mentioned earlier, TBI patients exhibit communication deficits that relate to poor cognitive functioning such as problems with word finding, grammatical, spelling, reading, and writing. The cause of TBI is very straightforward, unlike SLI or ASD. Any injury to the head, for example motor vehicle accidents, falls, blast trauma, and more, can cause a TBI. These in turn can cause damage to multiple areas of the brain and impair motor, speech, language, and cognitive functions as discussed. It is important to note that unlike ASD that usually

The cell is the basic unit of life in eukaryotic organisms. The inside of the cell is comprised of multiple subunits called organelle that all function together to maintain homeostasis and function. Each individual organelle is assigned a specific task and purpose for the cell. These tasks and purposes can range from structural support all the way to the disposal of malfunctioning organelle.1 Similarity to a machine, if one part stops functioning to full potential, serious if not fatal consequences can be faced. A shining example of the effects of a malfunctioning organelle occurs in Tay-Sachs disease. Tay- Sachs disease is a lysosomal disorder that is caused by a faulty lysosome.1 Recent studies and research have been investigating the causes and pathways Tay-Sachs disease with great success, which is amazing news for the scientific community.

Changes in the brain will be that some parts are not getting the blood supply which then leads to dead tissue causing a form of disability depending on the area of the brain affected.

Signs and symptoms of the disease do not begin to surface until the child is around six months of age and it begins with gradual dysfunction of the motor skills. As the nervous system further degrades the symptoms become worse and the child loses sight, hearing, and mental functionality. Unfortunately there is no treatment for Tay-Sach’s except comfort measures and the life expectancy for a child with infantile Tay-Sach’s disease is typically four to five years (Ainsworth, 2011). The physician would need to emphasize that maternal age or lifestyle does not have any part in the cause of this diagnosis. The physician would then need to explain the options available at this time which are carrying the child to term or terminating the pregnancy via therapeutic abortion (Tay-sachs.org). Depending on the parent’s decision, should they choose to carry the child, they can also choose to care for the infant or place it for adoption. After the physician has spoken with the family, the RN would need to be there for the family, not only to listen, but again to answer any questions they may have.

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

Warren Tay who was a British ophthalmologist physician, he noticed a cherry red spot in the retina of a one year old child who was suffering from mental and physical retardation. Bernard Sachs who was an American neurologist noticed an extreme swelling of neurons in autopsy tissue from affected children. He also founded that the disease comes from the families who is Jewish origin. Both physicians were describing the same disease, but it was not until the 1930s that the material causing the cherry-red spot and neuronal swelling was identified as a ganglioside lipid and the disease could be recognized as an "inborn error of metabolism." The term "ganglioside" was coined because of the high abundance of the brain lipid in normal ganglion cells

Symptoms that may be expressed include memory loss, mood swings, slurred speech, depression, and death usually from heart disease or pneumonia. There can also be steady downfall of the person mental health. This also can destroy two small regions of the brain (the putamen and the caudate nucleus) that help control movement.

Research is also being done to help with the curing of Bell’s Palsy. The National Institute of Neurological Disorders and Stroke (NINDS) performs extensive research in order to better the understanding of how the nervous system works and what causes dysfunction in the nervous system. Some of this research entails learning more about what causes nerve damage and certain diseases and conditions that cause nerve damage. Information gained from this research can aid neurologists to find the cause of Bell’s Palsy, which would obviously lead to better treatments (NINDS, 2011).

the disease decreases the generation of brain tissue and nerve cells causing difficulty for the brain to communicate with the body and properly function. In the brain Acetylcholine levels begin to drop and with those levels decreasing the functions to learn, concentrate and remember information tend to disappear slowly. The damage is initially in the hippocampus which is the part of your brain that forms memories.

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.