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Tay-Sachs Disease

 

 

Tay-Sachs Disease is a hereditary metabolic defect.  Individuals affected with Tay-Sachs lack the enzyme hexosaminidinase-A, the enzyme responsible for fat metabolism in the brain.  Absence of this enzyme results in the accumulation of fat in the brain and leads to in irreversible nerve damage.  An infant affected with Tay-Sachs Disease may appear normal and healthy at birth.  Symptoms generally do not appear until the 3rd-6th month.  Once symptoms appear, progression of the disease is rapid.  A majority of children affected live only up to their fifth year.           

 

Most cases of Tay-Sachs Disease occur among infants.  Clinical features of Tay-Sachs Disease include loss of response to the environment, blindness, mental deterioration, paralysis and epileptic seizures.  An early sign for Tay-Sachs Disease is the appearance of a cherry-red spot on the retina of the eye.  There is no known cure nor is there an effective treatment for Tay-Sachs Disease.  Much of the efforts is geared towards making the child with Tay-Sachs Disease as comfortable as possible.  Diets of children affected are strictly monitored to ensure that they are getting the sufficient nutrients.  There have been some cases of adult onset of Tay-Sachs Disease as well.  Symptoms of this include an unsteady gait (ataxia), inability to move smoothly (dysarthria), muscle weakness and recurrent psychosis.  Adult onset of Tay-Sachs Disease is often misdiagnosed.           

 

Tay-Sachs Disease is inherited as an autosomal recessive trait.  It is primarily found among Jews of Eastern European descent where one out of  27 is a carrier.  Similar rates are also found among French Canadians, Cajuns and in Amish communities.  Screening for the Tay-Sachs gene is accomplished by a simple blood test that measures Hex-A in the blood.  Lower than normal levels of Hex-A in an individual indicate that he or she is a carrier.  This test is strongly recommended to those at risk ethnic groups listed above.  Family history of the disease is often not comprehensive due to the high mortality rates among infants affected, and is not a necessary prerequisite for testing.  Anyone who is found to be a carrier of the disease should alert relatives and encourage them to be screened as well.            

 

A new technology is now available to couples at risk of passing on Tay-Sachs Disease to their children.  Pre-Implantation Genetic Diagnosis (PGD) tests for genetic defects such as the Tay-Sachs gene in embryos conceived through IVF.  Only genetically healthy embryos are implanted.  Couples, through PGD, can be assured of having disease-free children.

 

 

Click here for more information on PGD

 

Click here to learn about other diseases

 

 

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Last modified: 06/09/04