Tay Sachs Essay

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.

Multiple sclerosis is a chronic, progressive neurological disease affecting all aspects of life: physical, cognitive, emotional, and social (Abma). It is known as an autoimmune disease, Where the body’s immune system turns against the body and destroys the protective covering that surrounds nerve cells. This damage to the nerve cells causes many problems for the patient including weakness, muscle stiffness, poor coordination and balance, tingling, numbness, tremors, blurred vision, slurred speech, and memory and concentration problems (Bren)

An individual diagnosed with a terminal illness has one major battle to fight. Families of terminally ill patients suffer significant effects related to an illness, forcing some households to have large debts and making them unable to afford food and other necessaries. One specific terminal illness is called Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease. ALS is a disease affecting the human nervous system like the brain, muscles, and spinal cord. It is a deadly disease that cripples and kills its victims. ALS is a terminal illness that is characterized by specific symtoms and has treatments.

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.

Multiple sclerosis, or MS, is a disease of the central nervous system. The central nervous system is made up of the brain and spinal cord. Both have nerve fibers that are wrapped in a myelin sheath. In MS, the myelin sheath becomes inflamed and gradually is destroyed. With the destruction of the myelin sheath comes an array of symptoms that may include numbness or tingling, balance problems, weakness, muscle spasms, and blurred vision.

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.

Sports athletes such as Lou Gehrig gain success and win championships, but they may lose their ability to perform daily functions. Diseases such as ALS and CTE are one of the main causes that strip athletes from continuing to practice sports and physical activities. These two conditions are consequences of hits and impacts to the head that affect the brain. Therefore, people should be prepared and know what to do when an athlete receives a blow to the head. Rules should be made to protect the athletes from head trauma like adding equipment or prohibiting certain physical activities that would create a chance of receiving an impact to the brain.

Professional athletes can be at risk of Amyotrophic Lateral Sclerosis,Chronic Traumatic Encetholpothy and concussions. The reason they can occur is because of brain trauma. ALS is a diseases in which certain nerves cells in the brain in the spinal cord slowly die, it is also responsible for controlling voluntary muscle movements. On the other hand CTE is a degenerative brain disease found in athletes, military veterans and others that have a history in repetitive brain trauma. In CTE, a protein called Tau forms clumps that slowly spreads throughout the brain cells, killing brain cells. A concussion is a traumatic brain injury that affects your brain function. Concussions are usually caused by a blow to the

Tay Sachs is a genetic disorder that occurs when there is a missing enzyme in the body. This causes a buildup of fatty substances in the nervous system (Gale). Beta-Hemosaminidase, or HexA, is the missing enzyme that causes the various nerve disorders that happen within Tay Sachs (NTSAD). This disease is inherited in a few different areas of the world, but it is most commonly

Multiple Sclerosis is an autoimmune disorder where the myelin sheath within the Central Nervous System is attacked (National Multiple Sclerosis Society, 2017). The myelin sheath protects the axon of the nerve cell. When the myelin sheath is intact, the axon is able to carry impulses away from the neuron’s cell body, and the message carried is clear. With Multiple Sclerosis, the myelin sheath becomes scarred, hence the word “sclerosis”, and distorts the nerve impulses traveling over the CNS (National Multiple Sclerosis Society, 2017). This may cause the message to be changed or stopped altogether.

It was a raw, blustery March day and I was leading four classmates to my house to hash out the remaining details of our current English presentation. When I opened the door, however, I received a surprise. I had not anticipated my mother still being home and neither had my group members. Their faces turned slightly blank, as if they were trying to hide their confusion and surprise. The previously relaxed atmosphere had become very formal and quiet. I had seen this before.

Functional Hex A enzymes are lytic enzymes, which degrade these old gangliosides and expel them as waste. Patients with Tay Sach’s have a mutation in the gene that codes for the Hex A enzyme, this results in the lipid build up that can cause neuronal death which lead to the symptoms of Tay Sach’s. The most common form of Tay-Sachs takes place during infancy. Infants with the disease usually show no symptoms until four to six months of age, this is usually when their development and motor skills tend to weaken. As the disease develops, the infants start to experience seizures as well as vision and hearing loss. Paralysis and a drop in intelligence have also been observed. Children with Tay-Sachs usually live only to about five years of age. Because of the high lethality rate any measures toward a cure must be aggressive. As of date there are no tested treatment options for the disease but there are a few options that have shown promise for other lipid storage diseases.

The human brain is utterly baffling. A small organ weighing merely three pounds as an adult has the ability to control and shape a human’s life. Without it there would be nothing. There are so many different functions… and with that there are so many things that can go horribly wrong. It is amazing the capacities and that it possesses and we do not even realize it. That is why studying neurology and working on the treatment of neurological disorders is so critically important. Through the examination of Huntington’s disease, Bell’s Palsy, and Aphasia, neurologists can work to better the human mind and cure the diseases that attack it, which will infinitely enhance the lives of humans and create a brighter future for us all.

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.

Regardless of which occur first, affected individuals will generally experience most of the symptoms as the disease progresses. Specifically, symptoms that include difficulty swallowing, moving, forming words, tight muscles, spasticity, and/or exaggerated reflexes occur when the upper motor neurons have been damaged. When lower motor neurons are damaged, symptoms such as muscle weakness, atrophy, cramping, and twitching will occur. In some cases, a few of the muscle neurons that