How does Tay Sachs disease progress?

Tay-Sachs disease is a fatal genetic disorder that leads to the destruction of nerve cells in the brain and spinal cord. It is caused by a mutation in the HEXA gene, which codes for an enzyme called hexosaminidase A. This enzyme is responsible for breaking down a fatty substance called GM2 ganglioside, which is found in the membranes of nerve cells. When hexosaminidase A is not functioning properly, GM2 ganglioside builds up in the nerve cells and damages them, eventually leading to their death.

Tay-Sachs disease typically presents in infancy, with symptoms such as:

* Cherry-red spot in the eye (macula)

* Hypotonia (low muscle tone)

* Developmental delays

* Seizures

* Difficulty swallowing

* Vision problems

* Hearing problems

* Paralysis

The disease progresses rapidly, and children with Tay-Sachs disease usually do not survive beyond the age of 5. There is no cure for Tay-Sachs disease, but treatment can help to relieve symptoms and improve quality of life. Treatment may include:

* Enzyme replacement therapy

* Physical therapy

* Occupational therapy

* Speech therapy

* Vision therapy

* Hearing therapy

* Medications to manage seizures and other symptoms

Tay-Sachs disease is a devastating disorder, but there is hope for families affected by this disease. Screening is available to identify carriers of the HEXA gene mutation, and prenatal testing can be performed to diagnose the disease in utero. Early diagnosis and treatment can help to improve the quality of life for children with Tay-Sachs disease and their families.