Tay-Sachs disease is a rare inherited disease. The most common form of this disease starts in infancy. Babies with this disease are born without a certain enzyme. This causes fatty proteins to build up and cause nerve damage. The baby’s ability to see, hear, move, and develop is affected.
Other forms of Tay-Sachs disease are very rare, and not as severe as the infantile form. Symptoms can appear in childhood, adolescence, or adulthood.
What is the cause?
Inside each cell of your body are genes. Genes contain the information that tells your body how to develop and work. Changes in the genes can be passed from parents to children.
A baby can only have Tay-Sachs disease if both parents carry the gene that causes the disease. This gene is most common among certain ethnic groups, such as Ashkenazi Jews, French-Canadians, and Cajuns.
What are the symptoms?
A baby born with Tay-Sachs develops normally for the first 3 to 6 months. After the first few months, the baby starts to lose the ability to see, hear, and move. The child will stop smiling, crawling, turning over, and reaching out for things.
By the age of 2, your child may have seizures and become blind, deaf, and paralyzed. Most children who are born with this disease die by 5 years of age.
How is it diagnosed?
Couples in the ethnic groups at risk for the disease can get screened for the Tay-Sachs gene with a simple blood test.
Pregnant mothers can have tests to check for Tay-Sachs disease. The diagnosis before birth may be based on:
Chorionic villus sampling, or CVS, which tests a sample of cells from the placenta
Amniocentesis, which uses a needle put into the mother’s belly to draw a sample of fluid from around the baby
After your baby is born, a special type of blood test can be done to confirm that your child has Tay-Sachs disease.
How is it treated?
Medical care can help to relieve pain, manage seizures, and control other symptoms. There is no cure for Tay-Sachs disease.
In many cases, families are unable to care for a child with Tay-Sachs disease without help. In some cases, home healthcare may allow you to keep your child at home. In other cases, the best choice for your child may be a supervised living facility. Family counseling may help your family cope with your child’s disorder.
Pediatric Advisor 2015.1 published by RelayHealth. Last modified: 2013-04-18 Last reviewed: 2013-04-18
This content is reviewed periodically and is subject to change as new health information becomes available. The information is intended to inform and educate and is not a replacement for medical evaluation, advice, diagnosis or treatment by a healthcare professional.
Tay Sachs Disease: References
Nelson Textbook of Pediatrics, 19th Edition, 2011 pages 484-487