Tay-Sachs Disease Analysis

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.

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.

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.

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 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 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.

The history behind Tay Sachs disease is in 1881 Warren Tay who is a ophthalmologist had this child with mental and physical retardation in the child’s

Tay Sachs Disease is an inherited disease that results in slow destruction of the central nervous system and sensory systems, which is caused by a mutation resulting in a deficiency of a lysosomal enzyme. The missing enzyme, hexosaminidase A, functions in breaking down the fatty material ganglioside GM2, a chemical found in nerve tissue. Without this enzyme, lipids accumulate in the brain cells and destroy them, resulting in damaged nerve cells, neurological problems, and eventually leading to death several years after birth. The disease was first discovered by Waren Tay, a British ophthalmologist in 1881. Tay-Sachs disease is very rare in the general population and is relatively common among certain ethnic groups such as Eastern Europeans

The symptoms from this disorder are weakness, trouble breathing, & usually for children death after two years. Most children died after two years after having type 1 SMA.

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

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

Imagine that there is a disease that is terrible and causes trouble for you every day, there is no cure, there is only the dragging on of day after day. This is Tay Sachs Disease, it is a disease that is lifelong, that is, unless it kills you early on in life. This disease has lots of symptoms. These symptoms are a result of how the disease affects the brain and its functionality. This disease is an inherited disease, and is known as a serious genetic disease.(“Health and Wellness Resource center and Alternative Health Module”). This disease is a autosomally recessive disease that is caused by a defect in the HEXA gene which provides instructions for making part of an enzyme called beta hexosaminidase A, which is critical in the brain

B. Walking becomes difficult, if a fall occurs, the person may not be able to stand back up alone. Driving is relinquished. Weakness in swallowing muscle may cause choking, and greater difficulty eating and managing saliva.

The method of reproductive decision-making discussed here is carrier screening for Tay-Sachs disease. Non-directive counseling refers to the test being offered without influence on the client’s ultimate course of action. The decision to be tested should be completely voluntary and the sole choice of the individual. For example, if a clinician finds that a couple is both carriers for Tay-Sachs disease that clinician cannot then tell the couple that they must refrain from having children.

For older individuals with adult-onset HEX A deficiency, other symptoms may need to be treated such as psychiatric manifestations. In the case of psychiatric manifestations, doctors may use conventional antipsychotic or antidepressant drugs; however due to the large variability of the psychiatric manifestations that occur in Tay-Sachs patients, the patients clinical responses to these drugs tend to be largely variable and highly unpredictable.