Tay Sachs Disease

By Shelby Schoffstall & Alexis McVeigh

Overview

Tay-Sachs disease is a deadly disease of the nervous system passed down through families. If only one parent passes the defective gene to the child, the child is called a carrier. He or she won't be sick, but will have the potential to pass the disease to his or her own children. Anyone can be a carrier of Tay-Sachs, but the disease is most common among the Ashkenazi Jewish population. About 1 in every 27 members of the Ashkenazi Jewish population carries the Tay-Sachs gene.

Symptons

  • Deafness
  • Decreased eye contact, blindness
  • Decreased muscle tone (loss of muscle strength)
  • Delayed mental and social skills
  • Dementia
  • Increased startle reaction
  • Irritability
  • Listlessness
  • Loss of motor skills
  • Paralysis or loss of muscle function
  • Seizures
  • Slow growth
  • Symptoms appear during the first 3 to 10 months of life and progress to spasticity, seizures, and loss of all voluntary movements.

    Defective Gene

    Tay-Sachs disease is caused by a defective gene on chromosome 15. When both parents carry the defective Tay-Sachs gene, a child has a 25% chance of developing the disease. The child must receive two copies of the defective gene -- one from each parent -- in order to become sick. If only one parent passes the defective gene to the child, the child is called a carrier. He or she won't be sick, but will have the potential to pass the disease to his or her own children

    Treatment

    There is no treatment for Tay-Sachs disease itself, only ways to make the patient more comfortable.

    The stress of illness may be eased by joining support groups whose members share common experiences and problems.

    Go to the emergency room or call the local emergency number (such as 911) if your child has a seizure of unknown cause, if the seizure is different from previous seizures, if the child has difficulty breathing, or if the seizure lasts longer than 2 - 3 minutes.

    Prevention

    There is no known way to prevent this disorder. Genetic testing can detect if you are a carrier of the gene for this disorder. If you or your partner are from an at-risk population, it is recommended that you undergo testing before starting a family. Testing the amniotic fluid can diagnose Tay-Sachs disease in the womb.