Wednesday, April 20, 2011

Tay-Sachs Disease



TSD (Tay-Sachs Disease) 
is also known as GM2 gangliosidosis or Hexosaminidase A deficiency (lack of this protein). This causes a lack of gangliosides (chemical broken down by protein) breakdown. TSD is a autosomal recessive genetic disorder, which means that it is inherited from genetics (your parents) when you are born. This disease effects the nervous system. This disease happens directly in Chromosome 15. 


How do you get this disease?
--A child must receive the gene from EACH parent in order to have TSD. When each parent has the gene, the child has a 25% chance of getting the disease. D: If only one parent gives the child the gene, then the child becomes a carrier. Carriers don't have symptoms of the disease but the can pass it on to their children!


Who is it common in?
Surprisingly, 1 in 27 people of the Ashkenazi Jewish population get this disease. 


How bad does it get?
TSD is classified into three different parts: infantile, juvenile, and adult forms. Most people have infantile form. Which if found when they are infants and it progresses until they die around for or five years of age.
Late-onset Tay-Sachs is very rare. It's the kind of TSD that affects adults.


What about symptoms?
Since it affects the brain, your going to find symptoms like:
Slow growth
Seizures
Loss of motor skills & muscle function
Deafness
Blindness
Irritability
Delayed metal and social skills


Treatment?
If the Dr detects signs of TSD they do things like a physical exam & an eye test. As far as treating the disease to get rid of it... there is no way YET there is ONLY ways to make the patient comfortable.


So basically?
TSD is a fatal genetic disorder that you have no way of preventing. It normally occurs when the child is first born, but there are other rare forms of the disease. There is no treatment for this disease either. 


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





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