Sunday, December 11, 2011

Tay-Sachs Disease

Hi guys! Heidi here.

My genetic disorder was Tay-Sachs disease. Tay-Sachs disease is a disease of the nervous system passed down through people who are from the Ashkenazi Jewish population. Tay-Sachs disease is caused by a defective gene on chromosome 15.

Some symptoms are:
  • deafness
  • blindness
  • loss of muscle strength
  • delayed mental and social skills
  • loss of brain function
  • increased startled reaction
  • irritability
  • loss of motor skills
  • loss of muscle function
  • seizures
  • slow growth
You can get tested for Tay-Sachs disease before the child is born by a physical examination.
If the child had a seizure of an unknown cause or if they were different from other seizures, if the child had difficulty breathing, or if the seizure lasts longer than 2-3 minutes, the child might have Tay-Sachs disease. There are no existing treatment for Tay-Sachs disease.
Although there aren't any existing treatment all you can do is make the child comfortable. 1 in every 27 members of the Ashkenazi Jewish population are carriers. Most people who have this disease usually die at age 4 or 5, their symptoms are shown when they are 3-6 months old.

1 comment:

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