Tay-Sachs is a disorder that comes as a result of a mutation of the HEXA gene. The disorder is rare yet deadly. It brings about progressive deterioration to the mental as well as nerve cells. It often results to death especially when the patient is a minor. When the HEXA gene mutates, it fails to deliver what is required of it and there comes an accumulation of exasaminidase-A. Hexa mutations are rare and can only be detected in genetically isolated populations. Although it does not have a cure, it has treatment that can promote healthy and normal living. The Tay-Sachs disease is a disorder that has both genetic and metabolic components and is thus deadly.
When it comes to genetics, both parents having the disorder have a 25% chance of giving birth to a child that is affected. Such a disorder is known as the autosomal recessive genetic disorder. The Tay-Sachs disease comes from mutations of the HEXA genes. Normally, the HEXA genes carries out the role of manufacturing the beta-hexosaminidase. The beta-hexosaminidase A is an enzyme that has a critical role in the spinal cord and the brain. This enzyme is found in the lysosomes which are the recycling centers of the body. The role of the enzyme is to break down GM2 ganglioside and which is a fatty substance.
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With the mutations to the Hexa gene, the role of the beta-hexosaminidase A is disrupted. As such, the enzyme does not break down the GM2 ganglioside (Tallman, Johnson, & Brady, 1972) . After some time, the GM2 ganglioside accumulates to high levels that are toxic to the body. This particularly happens in the neurons in the brain as well as in the spinal cord. This brings damages to those areas and eventually the neurons of the body. What follows is the symptoms of the Tay-Sachs diseases. The disorder is as a result of metabolic issues. The cause is the malfunctioning of lipid synthesis which occurs during metabolism.
Symptoms of the Tay-Sachs Disease
The symptoms that come from the progressive neurological deterioration could include loss of appetite, acquired motor skills, irritability, vomiting as well as seizure activity. As it progresses, it goes on to promote weakness and a weak muscle tone which is also known as hypotonia (Tallman, Johnson, & Brady, 1972) . The patient might also experience episodes of lactic acidosis which might be a precedent to impaired kidney and respiratory function. In infants, the symptoms include regular seizures, slow growth, delayed mental and social development as well as a red spot on the macula.
There are various forms of Tay-Sachs that have somehow different symptoms. These forms include the juvenile, chronic, and adult forms of the disorder. Whereas these are rarer, they tend to be milder in severity. The Juvenile form of Tay Sachs affected people between 2 and 10 years of age. However, patients with the disorder rarely live past 15 years of age. Children chronic form of Tay-Sachs where the symptoms develop below the age of 10 years. The symptoms graduate slowly and includes muscle cramps, slurred speech as well as tremors (Pastores, 2010) . Life expectancy with the disease and it is possible for some people to have a normal lifespan.
The mildest form of the disorder is the adult Tay-Sachs. Its symptoms appear when the individual is in his adolescence or adulthood. Those suffering from Tay-Sachs disease which usually has different symptoms. These include muscle weakness, unsteady, slurred speech, memory problems as well as tremors. The life expectancy varies despite with the severity of symptoms.
Unfortunately, there is no cure for the disorder yet. As such, the main aim of the treatment is to support the comfort of the patient. To start with, there are different types of medication which include seizure medication. Of importance, also is respiratory care. Children that are suffering from Tay-Sachs have a high risk of suffering from lung infections which can bring about the breathing problems. If mucus accumulates in the lung the individual cannot take in enough oxygen that it needs. Respiratory therapists should be the ones handling such a task as they have specialized on it (Karaa, Haxton, & Al, 2016) . The feeding of a child is a very important procedure that should be implemented in the most careful manner possible. With the disorder, it is very possible for him or her to inhale liquid and food during the feeding process.
When the food and liquid gets into the lungs, it can result into deadly infections. As such, it is recommended to get training on feeding with devices such as the nasogastric tube. The tube is inserted into the child through his nose and directly to the stomach of the child. Another method is through the use of the esophagogastrostomy tube. This, however, should be performed by a doctor that is trained in surgery (KARACAN & SCHNECK, 2013) . Physical therapy is very important especially as the disease continues to progress. With physical therapy, it will be possible for the child to benefit by keeping his joints flexible. As a result, he will maintain their best ability to move as most as possible. With physical therapy, it is possible to reduce joint stiffness which can be able to delay the loss of functions that is mostly as a result of shortened muscles.
Family support is also important for the child’s treatment. This will provide him or her with the psychological pillars that he has to have to compare with the child’s needs. In the case a family is not available, the patient could use the help of support (Pastores, 2010) . The guardian or patients should be able to ensure they follow up on the care and coordination of the treatments. In the case the patient visits several practitioners to help with the issue, there should be coordination so that their recommendations will not collide and end up turning the patient into a chronic one.
There are several therapeutic options for the various forms of the disorders that are still being developed by the day. These include the hematopoietic stem cell transplants, enzyme replacement therapy as well as substrate reduction therapy (Dersh, Iwamoto, & Argon, 2016) . These have become necessary after some procedures such as aberrant inflammation have proven to be highly prone to errors. However, even the above therapies are tough to administer because of the relationship that exists between the relationship of the blood and brain.
Diagnosis of the Disorder
The disorder can be diagnosed by carrying out blood tests to reveal whether or not the body is producing Hexosaminidase-A enzyme. If the results are not satisfactory, another blood test can be carried out to extract the individual’s DNA (Dersh, Iwamoto, & Argon, 2016) . This DNA can then be examined for the HEXA mutation. The sighting or lack, thereof, of the mutation is the only sure test for the disorder.
Conclusion
Tay-Sach’s disease is a disease that affects the brain and nerve cells in an individual and can lead to death. It comes after the HEXA gene mutates and stops dissolving the enzyme Hexosaminidase. This presents a situation where cell membrane components collect in the nerve cells of the brain. The disorder starts by destroying the mental health of the individual in a gradual manner. Although it starts slowly by causing problems such as forgetfulness, it can graduate to death in a short while. Despite the disorder not being curable, there is treatment that can promote healthy and normal living.
References
Dersh, D., Iwamoto, Y., & Argon, Y. (2016). Tay–Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum–associated degradation. Molecular Biology of the Cell, , 3813-3827.
Karaa, A. A., Haxton, E., & Al, E. (2016). Retrospective survey of late onset Tay-Sachs disease. Molecular Genetics and Metabolism , S64-S65.
KARACAN, I., & SCHNECK, L. (2013). Inborn Disorders of Sphingolipid Metabolism: Proceedings of the Third International Symposium on the Cerebral Sphingolipidoses. Elsevier.
Pastores, G. M. (2010). Therapeutic approaches for lysosomal storage diseases. Ther Adv Endocrinol Metab , 177–188. .
Tallman, J. F., Johnson, W. G., & Brady, R. O. (1972). The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue. The Journal of Clinical Investigation , 2339–2345.
