Tay-Sachs disease
Tay-Sachs disease is a rare, inherited (congenital) condition that affects the nervous system (nerves, brain and spinal cord).
What is Tay-Sachs disease?
Tay-Sachs disease is a rare metabolism disorder that causes damage to the nerve cells in the brain and spinal cord. A child with Tay-Sachs disease is born without an important protein called hexosaminidase. Without this protein, too much of a fatty substance called gangliosides builds up in the brain and spinal cord and destroys nerve cells.
Tay-Sachs disease is genetic, meaning that it is passed down from parents to children. The effects of Tay-Sachs disease on the nervous system are so severe that most children with the disease do not live past early childhood.
Risk factors
Your child has a 25 percent chance of being born with Tay-Sachs disease if both parents carry the gene defect. You can have a blood test to check for the gene during pregnancy.
What are the signs and symptoms of Tay-Sachs disease?
If your child has Tay-Sachs disease, they will not have any symptoms for the first few months after birth. Signs of Tay-Sachs begin around three to six months of age and after that, there is a rapid decline in a child’s health.
Symptoms include:
Intense startle reaction
Loss of motor skills
Mental decline
Muscle paralysis
Vision loss
What are the causes of Tay-Sachs disease?
Tay-Sachs is caused by a genetic defect that causes a baby to lack the protein hexosaminidase. In order for a child to inherit Tay-Sachs disease, both parents must carry and pass on the gene defect. If only one parent passes on the gene, the child is considered a carrier, but will not have the disease.