What is Tay-Sachs Disease?

Tay-Sachs disease is a fatal genetic disorder that affects the central nervous system. It is caused by a deficiency of the enzyme hexosaminidase A (Hex A), which is responsible for breaking down a fatty substance called GM2 ganglioside. GM2 ganglioside accumulates in the brain and spinal cord, causing progressive damage to nerve cells.

Tay-Sachs disease is inherited in an autosomal recessive manner, which means that both parents must carry the defective gene for the child to be affected. Carriers of the Tay-Sachs gene do not have the disease themselves, but they can pass the gene on to their children.

Symptoms of Tay-Sachs disease usually begin to appear between 3 and 6 months of age. These symptoms include:

* Loss of muscle tone

* Problems with coordination and balance

* Cherry-red spot in the eye

* Seizures

* Mental deterioration

* Hearing loss

* Blindness

Tay-Sachs disease is a progressive disorder, which means that symptoms worsen over time. Children with Tay-Sachs disease typically die before the age of 5.

There is no cure for Tay-Sachs disease, but there are treatments that can help to slow the progression of the disease and improve the quality of life for children with the disorder. These treatments include:

* Enzyme replacement therapy

* Bone marrow transplant

* Palliative care

Tay-Sachs disease is a rare disorder, but it is the most common genetic disorder among Ashkenazi Jews. Screening for Tay-Sachs disease is recommended for all Ashkenazi Jewish couples who are planning to have children.