Tay Sachs Disease
Tay-Sachs disease is one of the most devastating genetic disorders, children who are diagnosed with the disease rarely live beyond four years, Children with Tay-Sachs disease appear normal at birth, but when they are around 3 to 6 months old, they develop symptoms ranging from deafness and blindness to seizures and dementia, which eventually results in death. The Mayo Clinic elaborates on certain other symptoms of the disease that include decreased eye contact in infants, lack of crawling or smiling, and exhibiting slow body growth. According to the National Institute of Neurological Disorders and Stroke, those suffering from this disorder also have a characteristic “cherry-red spot” in their eyes. In fact, it was this cherry-red spot that first led to the characterization of the disease by British ophthalmologist Warren Tay in 1881
A child with Tay Sachs disease has one of the following body function not working vision, movement, hearing, due to enzymes, Hexosaminidase A (Hex A). The fatty proteins build up in the brain to prevent proper development.
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