A defective gene on chromosome 15 causes Tay-Sachs disease. 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.
The Symptoms of Tay-Sachs disease usually develop at the age of 3-6 months when the child starts to have muscle weakness, low muscle tone, and an increased startle response. Also, there are sudden contractions of large muscles when falling asleep. Between the age of 6 and 10 months a child will not meet motor milestones and may lose the ability to perform tasks such as sitting that he/she had previously learned. Decreased eye movement and contact as well as attentiveness are also seen along with a specific change in the eye called a cherry-red spot which can be seen during an eye exam. Between the age of 8 to 10 months a baby will move less and become less responsive. Vision will be lost and many will have seizures by a year of age. A person's head size will start to grow around 18 months of age and when a child is 2 years old, they typically have trouble swallowing and progress into an unresponsive vegetative state. Age of death is usually between 2 and 4 years, often from pneumonia. Complications- Severe difficulties with mobility and self-care lead to an enormous physical and emotional strain for the care. There's no cure for Tay-Sachs disease the goal of treatment is support and comfort. Mutations in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord.
No child has ever survived a diagnosis of Tay–Sachs Disease.
No child has ever survived a diagnosis of Tay–Sachs Disease.
This is an image of the chromosome carrying gene for Tay Sachs disease.
This is an image of the U.S. that shows data displaying the demographic of people affected with Tay Sachs.
These are two external links to organizations related to the disease Tay-Sachs:
http://www.tay-sachs.org/
http://www.curetay-sachs.org/about.shtml
http://www.tay-sachs.org/
http://www.curetay-sachs.org/about.shtml