• Uncategorized

Tay- Sachs disease

TAY-SACHS DISEASE 3

Tay-Sachs disease

Tay-Sachsdisease

Tay-Sachsis known to be a genetically inherited disease,but its occurrence is very rare. The disease affects the patientsmost infants aged six months to three years by being destructive tothe spinal cord andthe brains. Afterward, the development of the childrenslows down,and important body parts for body functions like movement weaken.Eventually,the patients lose their essentialabilities that are motor-mediatedbecause the relevant neurons are rendered functionless. As timeprogresses, the conditions become worse and more symptoms manifest.The patients develop a dislike to sound, vision and hearing loss,seizures, paralysis and intellectual disability (Kolter, Schepers&ampSandhoff, 2009). Additionally, the patients develop an eyeabnormality characterized by a cherry redspot,and only eye examination can identify it. The chances of Tay-Sachsdisease victims surviving are very minimal with most only making itto early childhood.

Noform of treatment exists that can successfully control or cure thedisease. However,research and current clinical programs focus on therapy and nutritionas a way to monitoringand managing the disease. Therapyis one of the efficientways if it works and it focuses on enzyme replacement. The disease isknown to store materials called gangliosides in the in the centralnervous system cells. The enzyme canclear them. However,more research is still ongoing. Other methods include bone marrowtransplant and gene therapy. All these methods are promising,but the cost of undertaking them might not meet the averagepopulation’s financial status (Kolter, Schepers&amp Sandhoff,2009). The best way to control Tay-Sachs illness is through genetictesting whereby screeningof parents for thedisease’s gene takes place to determine whetherthey are carriers. That prepares them psychologically just in casethey have a child with the condition which has twenty-five percentchances of occurrence

References

Kolter,T., Schepers, U., &amp Sandhoff, K. (2009). Tay – Sachs disease.In&nbspEncyclopediaof Molecular Mechanism of Disease&nbsp(pp.2027-2027). Springer Berlin Heidelberg.