Tay-Sachs disease

Definition of Tay-Sachs disease

Tay-Sachs disease is a deadly disease of the nervous system passed down through families.

Causes, incidence, and risk factors

Tay-Sachs disease occurs when the body lacks hexosaminidase A, a protein that helps break down a chemical found in nerve tissue called gangliosides. Without this protein, gangliosides, particularly ganglioside GM2, build up in cells, especially nerve cells in the brain.

Signs and tests

If Tay-Sachs disease is suspected, the doctor will perform aphysical examination and take a family history. Additional tests may include:

Treatment

There is no treatment for Tay-Sachs disease itself, only ways to make the patient more comfortable.

Expectations (prognosis)

Children with this disease have symptoms that get worse over time. They usually die by age 4 or 5.

Review

Kevin Sheth, MD, Department of Neurology, University of Maryland School of Medicine, Baltimore, MD. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 11/17/2010

ADAM Medical Encyclopedia

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