Tay-Sachs Disease

A genetic disorder in young children

What is Tay-Sachs Disease?

A genetic disorder in young children that causes progressive loss of mental and motor ability. Tay-Sachs disease involves mutations of a pair of genes on chromosome 15. It is autosomal recessive, which means that it is inherited by parents who do not show any symptoms, or has the recessive trait.

Symptoms

  • loss of voluntary muscle control and movement (late)
  • irritability (early)
  • intellectual impairment
  • seizures (late)
  • diminishing responsiveness and awareness (progressive)
  • loss of vision (progressive)

Children effected

Treatments

There is no treatment or cure for Tay-Sachs disease. Nearly all children who have Tay-Sachs disease die before the age of five years. Currently the most effective efforts target prevention by identifying carriers, who do not themselves have Tay-Sachs disease and who may not know they carry the gene mutation.

Works cited


"Tay-Sachs Disease." Volume 2. New Haven, Connecticut: Thomson Gale, n.d.
1244-46. Print.


Tay-Sachs Disease. Gale Science in Context. Web. 22 May 2013.
<http://ic.galegroup.com/ic/scic/ReferenceDetailsPage/ReferenceDetailsWindow?failOverType=&query=&prodId=SCIC&windowstate=normal&contentModules=&mode=view&displayGroupName=Reference&limiter=&currPage=&disableHighlighting=false&displayGroups=&sortBy=&source=&search_within_results=&action=e&catId=&activityType=&scanId=&documentId=GALE%7CCV2644032211>.