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.

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

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 sickness is an entangled and uncommon malady that happens when there is transformation in the DNA. This change does not permit the body to create 'Hex-A', which is basic to separating greasy mixes. Without this chemical, cerebrum and nerve harm can happen. Tragically this ailment has no treatment arrange and normally by 10 months of age, the youngster may encounter visual deficiency, seizures and be formatively postponed. The visualization is tragic: the kid will once in a while live past 5 years of age. The reason the youngster has this malady is on account of it is acquired. Either one or both of the folks are a transporter of this genotype that when communicated in posterity brings about Tay-Sachs. In the event that both folks

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

Tay-Sachs disease is a rare inherited disorder that gradually destroys nerve cells in the brain and spinal cord.

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

Without this enzyme working properly, there will be a toxic buildup of ganglioside in the brain causing serious and life-threatening complications. (“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”).Which is why the symptoms are so serious and normally result in the death of the person that has this disease. The person doesn't necessarily die from the actual disease sometimes, it can actually be from complications caused by this disease. 1 in 3600 Jewish infants are born with Tay Sachs disease. (“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). This disease, although it may not seem like it, is a autosomally recessive disease that has to be inherited through parents that either have the disease or are both carriers. Parents can be carriers and not even know it because this disease is recessive so both recessive alleles have to be present in order for the disease to show itself. Interestingly, 1 in 27 eastern European Jews are carriers for this disease. (“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Two of the three forms listed above are fatal and result in death not very late after diagnosis. Death normally occurs at a young age as the

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 enzyme huntington binds to glyceraldehydes-3-phosphate-dehydrogenase (GAPDH), a important enzyme in glycolysis. The cells now have inefficient glucose to the cells, which in the overall process causes the cells to die. ( Science News p268 )

Weight loss happens as the illness progresses. Continuous confusion, behavior changes, daytime sleepiness with nighttime sleep troubles, and other neurologic difficulties happen after the infection has infected the central nervous system. These signs come to be worse as the disease progresses. If left untreated, death will ultimately happen after some years of infection.

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.