Tay-Sachs

Also known as

  • Infantile Tay-Sachs Juvenile Tay-Sachs Late Onset Tay-Sachs LOTS

Tay-Sachs is a genetic disorder caused by a defect in the HEXA gene which produces the beta-hexosaminidase A enzyme. The enzyme is important as it breaks down harmful waste products in the brain and without it these build up and cause extensive damage to the brain’s nerve cells. Physically, an individual diagnosed with Tay-Sachs will suffer a relentless deterioration of mental and physical abilities.

Condition details

Inability to feed so require intervention (g-tube or PEG) Seizures Blindess Deafness Inability to move

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Can manifest in Toddler
  • Can manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

  • HEXA gene

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

Carriers are not affected by the disease but can pass these genes onto their children.

How many are affected?

1 in 320,000 births in the UK are affected by Tay-Sachs

Support groups and organisations

Mr Daniel Lewi
The Cure & Action for Tay-Sachs (CATS) Foundation
London
Tel
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Known experts

No experts found

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