Elise

=Tay-Sachs Disease=



====Tay-Sachs is an autosomal disease where there is a defect on chromosome 15, where it decreases and deteriorates the ability to do physical and mental tasks. It is also a severe psycho-motor development disorder which affects your nervous system and in all cases leads to death. This disease is passed down from your parents which means you have a defective gene and the copies of that gene you inherited from your parents are also defective. It is caused by a lack of hexosaminidase which is a protein that breaks down gangliosides. If ganglioside builds up it can turn into harmful quantities which is why you would need the protein to break it down. When it builds up it enlarges the lysosomes and fills up the cells which ceases all other cellular functions which usually occurs in the brain's nerve cells and kills them. . The life expectancy for an infant with Tay-Sachs is 5 years of age. 95 different types of mutations in the HEXA gene have been found that cause Tay-Sachs.====
 * ==What is it?:==

|| Although it is very rare in adults the symptoms vary on whether or not you are an infant or an adult.
 * ==Symptoms:==

(first signs)
-slowly stops development -muscles weaken -loss of motor skills (8-10 months, as the disease progresses) -seizures -hearing and vision loss -dementia {mental disorder caused by brain injury/disease} -memory disorders -personality changes -irratibility -delayed mental and social skills -listlessness -slow growth -impaired reasoning -inability to swallow -mental retardation -paralysis {loss of being able to move} -loss of function as human -an eye defect called a cherry-red spot

Adults:
-loss of muscle coordination -speech problems -mental illness

media type="youtube" key="ufEXHKqKDXk" width="425" height="350"
As you could see in the video that the man was wearing a Kippah. A Kippah is a hat that Jewish men wear. Tay-Sachs disease is most common in the Jewish population. 1:27 of the Ashkenazi Jewish population have Tay Sachs. ||

Sources:
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[|http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/]

[|http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease]

[|http://nervous-system.emedtv.com/tay-sachs-disease/symptoms-of-tay-sachs.html]

[|http://laners5.glogster.com/tay-sachs/]