Tay-Sachs disease is a fatal genetic disorder that is caused by the inefficient activity of an enzyme. Gangliosides are fatty substances (lipids) that develop in humans throughout life and are normally biodegraded regularly. In a normally functioning human system, the enzyme beta-hexosaminidase A (Hex A) controls the biodegradation of gangliosides.
If Hex A does not operate correctly, the gangliosides do not degrade but instead build up on nerve cells and tissue in the brain, causing a rapid and devastating deterioration of mental and physical abilities.National Institutes of Health: NINDS Tay-Sachs Disease Information Page
Disclaimer
The content in this page is not a substitute for professional medical advice. If you think you may be a carrier for Tay-Sachs Disease, please consult your doctor.
References
Fast Facts
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Symptoms
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Symptoms begin to appear at 3-6 months of ageGenetics Home Reference: Tay-Sachs disease
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There is no treatment or cure for Tay-Sachs, although some medications to control symptoms may work and extensive research is in progressNational Institutes of Health: NINDS Tay-Sachs Disease Information Page
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Rare in the general human populationGenetics Home Reference: Tay-Sachs disease
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On average, 16 cases of Tay-Sachs are diagnosed in the United States each yearKidsHealth: Tay-Sachs Disease
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About 1 in 250 people in the general population is a carrier of the Tay-Sachs geneKidsHealth: Tay-Sachs Disease
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The gene is recessive, so both parents must carry the gene for a child to develop itNational Institutes of Health: NINDS Tay-Sachs Disease Information Page
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High prevalence in people of Eastern European and Askhenazi Jewish descentGenetics Home Reference: Tay-Sachs disease NTSAD: What is Tay-Sachs Disease
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About 1 in 27 Ashkenazi Jews is a carrierKidsHealth: Tay-Sachs Disease
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High occurrence also noted in French-Canadian in Quebec, Old Order Amish in Pennsylvania (Pennsylvania Dutch), and Cajun in LouisianaGenetics Home Reference: Tay-Sachs disease NTSAD: What is Tay-Sachs Disease
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Preliminary data seems to suggest that people from Italy and the British Isles may have a higher occurrence of carriersNTSAD: What is Tay-Sachs Disease
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The disease may be detected in fetuses at 10-12 weeksKidsHealth: Tay-Sachs Disease
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The gene is recessive, so both parents must carry the gene for a child to develop Tay-SachsNational Institutes of Health: NINDS Tay-Sachs Disease Information Page
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Named for ophthalmologist Warren Tay and neurologist Bernard SachsNTSAD: What is Tay-Sachs Disease
