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Tay-Sachs Disease
URL of this page: https://medlineplus.gov/taysachsdisease.html

Tay-Sachs Disease

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Summary

Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems.

Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities decline. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4.

The cause is a gene mutation which is most common in Eastern European Ashkenazi Jews. To get the disease, both parents must have the gene. If they do, there is a 25% chance of the child having the disease. A blood test and prenatal tests can check for the gene or the disease.

There is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes.

NIH: National Institute of Neurological Disorders and Stroke

Start Here

  • About Tay-Sachs Disease From the National Institutes of Health (National Human Genome Research Institute)
  • Tay-Sachs Disease (Nemours Foundation) Also in Spanish

Diagnosis and Tests

  • Genetic Testing: MedlinePlus Health Topic From the National Institutes of Health (National Library of Medicine) Also in Spanish

Prevention and Risk Factors

  • Genetic Counseling: MedlinePlus Health Topic From the National Institutes of Health (National Library of Medicine) Also in Spanish

Related Issues

  • Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)

Genetics

  • GM2-gangliosidosis, AB variant: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Sandhoff disease: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)
  • Tay-Sachs disease: MedlinePlus Genetics From the National Institutes of Health (National Library of Medicine)

Clinical Trials

  • ClinicalTrials.gov: Tay-Sachs Disease From the National Institutes of Health (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

  • Article: Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational...
  • Article: Differential gene expression patterns in Niemann-Pick Type C and Tay-Sachs diseases:...
  • Article: Imbalance in redox homeostasis is associated with neurodegeneration in the murine...
  • Tay-Sachs Disease -- see more articles

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  • National Institute of Neurological Disorders and Stroke From the National Institutes of Health

Patient Handouts

  • Tay-Sachs disease (Medical Encyclopedia) Also in Spanish

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Tay-Sachs Disease

MEDICAL ENCYCLOPEDIA

  • Tay-Sachs disease

National Institutes of Health

The primary NIH organization for research on Tay-Sachs Disease is the National Institute of Neurological Disorders and Stroke

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