Tay-Sachs Disease

Tay-Sachs Disease

Taylor Phelps

Tay-Sachs Disease is a very rare, inherited disorder. It progressively destroys the nerve cells in the brain and spinal cord. 

     

This disease is caused by a defective gene on chromosome 15. This defective gene causes the body to not make a protein called hexosaminidase A. Without this protein, chemicals called gangliosides build up in nerve cells in the brain, destroying brain cells. This disease is hereditary. An individual has to receive two copies of the defective gene to become affected. If only one parent passes down the gene, then the child becomes a carrier. 

     

The name Tay-Sachs comes from British Ophthalmologist Warren Tay, and New York Neurologist Bernard Sachs. 

     

The most common form becomes apparent around 3-6 months of age. Signs and symptoms of Tay-Sachs Disease are muscle weakness, low muscle tone,increased startle response, seizures, delayed mental and social development, slow growth, and a red spot located on the macula. 

     

There is no cure for this disease, only palliative care, such as: medication to help with pain and to control seizures, physical therapy, feeding tubes, and respiratory care to reduce mucus buildup in the lungs.

There are currents research/support groups such as the Cure Tay-Sachs Foundation, the National Tay-Sachs & Allied Diseases Association, and the Cure & Action for Tay-Sachs Foundation.