Tay-Sachs Disease

What is Tay-Sachs Disease?

Tay-Sachs disease is a fatal genetic lipid storage disorder, located on chromosome 15, where harmful numbers of fatty substance called Ganglioside build up in tissues and nerve cells in the brain. There are many symptoms and eventually the disease is fatal.

The photo at the right shows a young child with Tay-Sachs Disease.

Impact Tay-Sachs Disease has on life expectancy

If the disease is infant onset the disorder is fatal before 5 years of age. If it is juvenile onset, then it is fatal in late childhood, or early adolescence. You can live up to 60 years of age is the Tay-Sachs disease in onset as an adult.

Symptoms of Tay-Sachs Disease

Other symptoms include: Blindness, deafness, paralysis, dementia, unsteady gait, enlarged head, shrill cry, floppy body position, neurological deterioration, and increased startle reflex to noise.

How common is Tay-Sachs Disease?

Both parents must carry the mutated gene in order for the child to be affected, because the gene is recessive. Then the child only has a 25% chance of getting Tay-Sachs Disesase. This disorder is more common in Eastern Europeans, Askhenazi Jewish descent, select cajun populations, and French Canadians living in Eastern Quebec and New England.

The photo shows the likelihood that a child will develop Tay-Sachs Disease if they have two parents carrying the for Tay-Sachs Disease.

Amount of people affected

General population- 1 out of 250 people are affected

Irish and British populations- 1 out of 50 or 1 out of 150 people are affected

French Canadians, Louisiana Cajuns, and Askhenazi Jewish- 1 out of 27 people are affected

Diagnostic tests performed to identify Tay-Sachs Disease

Doctors will ask about symptoms and medical history. A physical exam will be done, and doctors will check for red spots on the eyes of their patient.

In this phot a doctor is checking for cherry red spots on their patients eyes.

Is there any way to prevent Tay-Sachs Disease?

There is currently no way to prevent this disorder. Anticonvulsant medicine can initially control seizures. Proper nutrition and hydration can help keep the airway open, if not a feeding tube may be used to keep the child alive.

The photo at the right shows a feeding tube.

What research is being conducted?

The National Institute of Neurological Disorders and Stroke conducts research in laboratories and supports other research through grants to major medical institutions across the country.

Support Groups to help families

The National Tay-Sachs and Allied Diseases Association (NTSAD) has an annual family conference for the support of families with children who have Tay-Sachs Disease.

Here is a photo from he support group.


Warren Tay discovered the cherry red spots on people's eyes, so the disease was named after him. Bernard Sachs noted the cellular changes, so the disease was also named after him. Therefore, the disease is called Tay-Sachs Disease.

This is a photo of Warren Tay