The Tay-Sach disease is one fatal genetic disorder that mainly occurs in infants. The disease shows as early as when the child is three to six months. It results in progressive damage of the nervous system including the spinal cord and the neurons. The absence of the enzyme hexosaminidase-A in the body is what causes this disorder.
Parents who do not have the disorder can have their child suffering from this disorder. Defects in the gene that codes for the production of Hex-A enzyme are the causes of this disorder (Boustany, 2013). Every human being has two copies of this gene. Parents who do not have the disease can be health or carriers. If the parents are carriers, it means that they possess one gene that is active and the other is inactive. They appear to be healthy, but their children can inherit this faulty gene. There is a fifty percent probability of parents who are carriers passing the on the defective gene to their offspring. An offspring who gets one gene that is inactive is said to be a carrier just like the parents. However, a child who inherits the inactive gene from both parents will have the Tay - Sachs disease (Lew et al., 2015). Children whose parents are carriers have a probability of twenty-five percent of getting the disease and a fifty percent of being carriers.
Delegate your assignment to our experts and they will do the rest.
Parents can determine if their child has Tay-Sachs by observing them find out if they have the signs and symptoms of the disease. These signs and symptoms include:
• The development of the child begins to slow down or to go backward. The child may stop rolling over, sitting and crawling.
• The child may also lose some of the abilities they had. For example, they may stop hearing or seeing.
• Muscle spasms and seizures may occur.
• A red spot may also be noted in the back of the eyes
: Irritability and extreme response to sudden sounds.
Therefore, if your child shows any of these signs it advisable to take them to the hospital for diagnosis, the condition may not be curable, but it can be managed effectively.
References
Boustany, R. M. N. (2013). Lysosomal storage diseases—the horizon expands. Nature Reviews Neurology, 9(10), 583
Lew, R. M., Burnett, L., Proos, A. L., & Delatycki, M. B. (2015). Tay-Sachs disease: current perspectives from Australia. The application of clinical genetics, 8, 19.
