Tay-sachs - The Unknown KillerApril 24th, 2009 - 11:31 pm ICT by GD
The disease “Tay-sachs” has been identified as one of the most devastating and fatal of all the genetic disorders. According to experts, children who are diagnosed with Tay-sachs at birth do not go to live beyond four years of age.
Children who are born with the genetic disorder of tay sachs appear to be normal at birth. However when they grow around 3-6 months old, they begin to develop the symptoms of the disease varying from blindness to deafness and dementia to attacks of seizures, which all culminates to the eventual demise of the child.
The Mayo Clinic through its regular R&D on the tay-sach disorder has recently been able to elaborate on the other symptoms of the fatal genetic disorder. These symptoms include the lack of smiling and crawling in the infants, the decrease in their eye contacts and the evidence slow body growth in the infants.
According to the National Institute of Neurological Disorders and Stroke, those children with tay-sachs have a distinctive, “cherry-red spot” in their eyes. This distinctive, ““cherry-red spot” was in fact the characteristic that first led to the classification of this genetic disorder by Warren Tay, a British ophthalmologist in 1881.
The Genetics Home Reference has described the disorder of Tay-sachs as a disease that is caused by the accumulation of GM2 ganglioside a fatty substance in the brain. This accumulation of the substance is caused by the disruption of the activity of the enzyme called beta- hexosaminidase A that is present in the lysosomes of the cells and which is normally responsible for the degradation of GM2 ganglioside.
Tags: accumulation, blindness, deafness, dementia, eventual demise, eye contacts, fatal genetic disorder, fatty substance, genetic disorders, genetics home reference, gm2 ganglioside, lysosomes, mayo clinic, national institute of neurological disorders, national institute of neurological disorders and stroke, ophthalmologist, seizures, tay sach disorder, tay sachs, warren tay