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Tay-Sachs disease is a rare genetic disorder passed from parents to child It's caused by the absence of an enzyme that helps break down fatty substance These fatty substances, called gangliosides, build up to toxic levels in the brain and spinal cord and affect the function of the nerve cells CHARACTERISTICS & SYMPTOMS In the most common and severe form of Tay-Sachs disease, signs and symptoms start to show up at about 3 to 6 months of age As the disease progresses, development slows and muscles begin to weaken. Tay-Sachs disease is a genetic disorder that is passed from parents to their children, It’s also an autosomal recessive inheritance pattern It occurs when a child inherits a flaw (mutation) in the HEXA gene from both parents HOW IS IT DIAGNOSED? To confirm that your child has Tay-Sachs disease, your health care provider will ask about symptoms and any family hereditary disorders, and also do a physical exam Your child may need to see a neurologist and an ophthalmologist for nervous system and eye examinations HOW IS IT TREATED? There is no cure for Tay-Sachs disease, and no treatments are currently proved to slow progression of the disease Some treatments can help in managing symptoms and preventing complications The goal of treatment is support and comfort FACTS Tay-Sachs disease is a rare genetic disorder passed from parents to child Treatment can help, but this condition can't be cured,around 1 in 300 people carry the genetic change (or variant gene) for Tay-Sach REVIEW QUESTION #1 What is the main three symptoms of Tay-Sachs disease? Children with the disease become deaf, blind, and lose the ability to swallow REVIEW QUESTION #2 Is Tay Sachs an autosomal recessive inheritance or an dominant recessive inheritance? Tay-Sachs is an autosomal recessive genetic disorder Autosomal means it affects males and females equally and recessive means both parents must be a carrier for the children to be at risk REVIEW QUESTION #3 Is tay-sachs disease contagious? Tay-Sachs disease is caused by a problem in a child’s genes so is not contagious