Tay - Sachs Disease 

Definition 

  •  Is a rare autosomal recessive genetic disorder 

A progressive fatal genetic condition that affects the nerve cells in the brain 

Causes 

Occurs when neither of the parents HEXA (Tay-Sachs) genes work properly because of a mutation (harmful change)

Detection 

Blood Tests


Infantile Tay–Sachs disease   - infants appear to develop normally for the first six months after birth. Then, as neurons become distended  a relentless deterioration of mental and physical abilities begins. 

  • The child may become blind, deaf, unable to swallow, atrophied, and paralytic. Death usually occurs before the age of four.

Juvenile Tay–Sachs disease  - is rarer than other forms of Tay–Sachs, and usually is initially seen in children between two and ten years old. 

  • People develop cognitive and motor skill deterioration. Death usually occurs between the age of five to fifteen years.

Adult/Late-Onset Tay –  A rare form of this disease, usually has its first symptoms during the 30's or 40's. 

Treatment 

No cure 
Control some symptoms 

Proper nutrition and hydration 

Comfort measures 

Facts 

  1. First discovered in a Jewish family (ethnicity)
  2. Nervous system shuts down 
  3. strikes 1 in 3600 births

Work cited 

https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease 

Google Images 

http://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/basics/definition/con-20036799

http://019221f.netsolhost.com/mollygrace.shtml

Youtube.com

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Public - 12/1/16, 6:38 PM