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Tay sachs disease

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Tay sachs disease

  1. 1. Tay-Sachs Disease<br />By: Kevin Hollis<br />5/18/11<br />Per. 2<br />
  2. 2. Overview<br />Tay-Sachs disease occurs when the body lacks hexosaminidase A, a protein that helps break down a chemical found in nerve tissue called gangliosides. Without this protein, gangliosides, particularly ganglioside GM2, build up in cells, especially nerve cells in the brain<br />
  3. 3. Inheritance<br />When both parents carry the defective Tay-Sachs gene, a child has a 25% chance of developing the disease. The child must receive two copies of the defective gene, one from each parent, in order to become sick. If only one parent passes the defective gene to the child, the child is called a carrier. He or she won't be sick, but will have the potential to pass the disease to his or her own children.<br />
  4. 4. Symptoms<br />Deafness<br />Decreased eye contact, blindness<br />Decreased muscle tone(loss of muscle strength)<br />Delayed mental and social skills<br />Dementia<br />Increased startle reaction<br />Irritability<br />Listlessness<br />Loss of motor skills<br />Paralysis or loss of muscle function<br />Seizures<br />Slow growth<br />
  5. 5. Signs<br />Symptoms usually arrive in the first 3-6 months of birth and the children usually dies by the age of 4-5. <br />
  6. 6. Testing<br />If Tay-Sachs disease is suspected, the doctor will perform a physical examination and take a family history. Additional tests may include:<br />Enzyme analysis of blood or body tissue for hexosaminidase levels<br />Eye examination (reveals a cherry-red spot in the macula)<br />
  7. 7. Family<br />Cause lots of problems on the family from cost to support group and the child’s necessities.<br />
  8. 8. Treatment<br />There is no treatment for Tay-Sachs disease itself, only ways to make the patient more comfortable.<br />

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