Stephen J. Schueler, M.D.

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Tay-Sachs Disease Overview

What is Tay-Sachs disease?
An infant with Tay-Sachs disease has a rare inherited disorder that results in severe damage to the nerve cells in the brain. Tay-Sachs disease is an autosomal recessive disease. This means that it takes two mutant genes, one from each parent, to cause the disease. In Tay-Sachs, the body fails to make a molecule that is required to break down certain fatty substances in the body. The substances collect in the nervous tissue, resulting in damage to the brain and nerves. Children with Tay-Sachs disease usually die before they reach 4 years old. Tay-Sachs disease affects approximately 1 out of every 320,000 newborns in the US each year.

What are the symptoms of Tay-Sachs disease?
Symptoms of Tay-Sachs disease include blindness, deafness, inability to swallow, inability to roll over, inability to crawl, severe muscle spasms, seizures, and severe muscle weakness.

How does the doctor treat Tay-Sachs disease?
There is no treatment for Tay-Sachs disease.

Continue to Tay-Sachs Disease Incidence

Last Updated: Nov 18, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Tay-Sachs Disease References
  1. Gason AA, Sheffield E, Bankier A, Aitken MA, Metcalfe S, Barlow Stewart K, Delatycki MB. Evaluation of a Tay-Sachs disease screening program. Clin Genet. 2003 May;63(5):386-92. [12752571]
  2. Kaplan F. Tay-Sachs disease carrier screening: a model for prevention of genetic disease. Genet Test. 1998;2(4):271-92. [10464605]
  3. Mugikura S, Takahashi S, Higano S, Kurihara N, Kon K, Sakamoto K. MR findings in Tay-Sachs disease. J Comput Assist Tomogr. 1996 Jul-Aug;20(4):551-5. [8708054]
  4. Sutton VR. Tay-Sachs disease screening and counseling families at risk for metabolic disease. Obstet Gynecol Clin North Am. 2002 Jun;29(2):287-96. [12108829]
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