Know all about Tay Sachs Disease

Tay Sachs disease is one of the unique diseases, which is neurodegenerative in nature. It affects the central nervous system and most often has fatal repercussion. The disease generally occurs in infants, but, in some severe cases, may also be seen in teenagers and adults. Generally, this causes the death of the infant by the time they reach age 4 or 5.

Causes and Symptoms of Tay Sachs Disease Research shows that the main cause of Tay Sachs Disease is a defective gene, which is present on the chromosome 15 also called HEX -A. Basically, this gene in its defective format inhibits the formation of protein hexosaminidase A, which, in turn, aids in production and built up of chemical gangliosides in the cells of the nerve which ultimately results in destroying it.
This disease is hereditary in nature, and hence, a child gets affected when he received two genes one from each parent. However, in case only one parent has the defective gene, the child is prone to carry it and may or may not transmit the same to its children.

Noticeable symptoms: Some of the symptoms of Tay Sachs Disease are deafness, loss of muscle strength, loss of sight, muscular stiffness, less social development, decreased overall growth rate and spot on the retina. A seizure is also a serious symptom, which needs immediate attention. Tremors, unsteady walking style or retarded speech, sometimes can also be counted as rare symptoms of this disease.

Possible Treatments: There is no treatment available for this disease. Emotionally handling the child and providing him full support counts the most. Palliative care can be taken which included medication sessions, anti-epileptics for seizure control, respiratory care to aid in the reduction of mucus building as well as some sort of physical therapies. Staying emotionally connected with the child is the most important part.
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