Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in tissues and nerve cells of the brain. This buildup destroys the nerve cells, causing mental and physical problems.
Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, mental and physical abilities deteriorate. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4.
Tay-Sachs is most common in Eastern European Ashkenazi Jews. A blood test can determine if you carry or have the disease. There is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes.
National Institute of Neurological Disorders and Stroke
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Genetics Home Reference: Tay-Sachs disease
(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=taysachsdisease
- Tay-Sachs Disease(Nemours Foundation) - http://kidshealth.org/parent/medical/genetic/tay_sachs.html
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Tay-Sachs Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm
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Learning about Tay-Sachs Disease(National Human Genome Research Institute) - http://www.genome.gov/page.cfm?pageID=10001220
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Tay-Sachs Disease(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_1227.asp
Also available in Spanish http://www.nacersano.org/centro/9388_9981.asp
- Genetic Counseling(Nemours Foundation) - http://kidshealth.org/parent/system/medical/genetic_counseling.html
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Sandhoff Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/sandhoff/sandhoff.htm
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Lipid Storage Diseases(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/lipid_storage_diseases/detail_lipid_storage_diseases.htm
Also available in Spanish http://espanol.ninds.nih.gov/trastornos/enfermedades_por_almacenamiento_de_lipidos.htm
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Lipid Storage Diseases(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/lipid_storage_diseases/lipid_storage_diseases.htm
- What Is Tay-Sachs Disease?(Dolan DNA Learning Center) - Requires Flash Player - http://www.yourgenesyourhealth.org/tay/whatisit.htm
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ClinicalTrials.gov: Tay-Sachs Disease(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Tay-Sachs+Disease%22
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Genetics Home Reference: GM2-gangliosidosis, AB variant(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=gm2gangliosidosisabvariant
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Genetics Home Reference: Sandhoff disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=sandhoffdisease
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Genetics Home Reference: Tay-Sachs disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=taysachsdisease
- Treating Tay-Sachs Disease(Society for Neuroscience) - http://web.sfn.org/index.cfm?pagename=brainBriefings_TreatingTaySachs
- Article: Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18808061&tool=MedlinePlus
- Article: Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18642377&tool=MedlinePlus
- Article: Structural consequences of amino acid substitutions causing Tay-Sachs disease. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18490185&tool=MedlinePlus
- Tay-Sachs Disease -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=(tay-sachs+disease[majr]+OR+sandhoff+disease[majr])+AND+humans[mh]+AND+english[la]+NOT+(letter[pt]+OR+editorial[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+3+Years&tool=MedlinePlus
- Tay-Sachs Disease - http://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&binning-state=group%3d%3dMedical%20Encyclopedia&query=Tay%2DSachs+Disease
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National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/
Also available in Spanish http://espanol.ninds.nih.gov/
- Brain and Nerves - http://www.nlm.nih.gov/medlineplus/brainandnerves.html
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
The primary NIH organization for research on Tay-Sachs Disease is the National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/