Tay-Sachs disease is a rare disorder passed from parents to child. In the most common form, a baby about 6 months old will begin to show symptoms.

Tay-Sachs disease results when an enzyme that helps break down fatty substances is absent. These fatty substances build up to toxic levels in the child's brain and affect the nerve cells. As the disease progresses, the child's body loses function, leading to blindness, deafness, paralysis and death.

There is no cure for Tay-Sachs disease. Gene therapy or enzyme replacement therapy research may eventually lead to a cure or treatment to slow the progression of Tay-Sachs disease.

Tay-Sachs disease occurs most frequently among people whose ancestors come from Eastern and Central European Jewish communities (Ashkenazi Jews), from certain French Canadian communities in Quebec, the Old Order Amish community in Pennsylvania and from the Cajun community of Louisiana. A child who inherits the gene from both parents develops Tay-Sachs disease.

If you have a family history of Tay-Sachs disease or if you're a member of a high-risk group and plan to have children, Mayo Clinic doctors strongly recommend genetic testing and genetic counseling.

  • Experience. Every year, Mayo Clinic doctors diagnose and care for children who have Tay-Sachs disease and offer support to their families.
  • Expertise. Mayo Clinic doctors provide compassionate care for children who have Tay-Sachs disease, taking into account the family's needs and concerns.
  • Team approach. Teams of doctors working together tailor care to each child.

To confirm that your baby has Tay-Sachs disease, your Mayo Clinic doctor will ask you about the child's symptoms and any hereditary family disorders and will order a diagnostic blood test.

While performing a complete physical exam of your child, the doctor may see a cherry-red spot in the back of the child's eyes, which is a sign of the disease.

Because there's no cure for Tay-Sachs disease, the goal of treatment is support and comfort. Some ways that your child's Mayo Clinic treatment team works toward that goal include:

  • Medication. To reduce your child's symptoms, a number of prescription medications are available, including seizure medications.
  • Respiratory care. Children who have Tay-Sachs disease are at high risk of lung infections that cause breathing problems and frequently accumulate mucus in their lungs.

    Respiratory therapists at Mayo Clinic have extensive experience in reducing the mucus using chest physiotherapy (CPT) and in training family members to provide CPT to your child at home.

  • Feeding tubes. Your child may develop respiratory problems by inhaling food or liquid into the lungs while eating.

    To prevent those problems, your doctor may recommend an assistive feeding device such as a nasogastric tube, which is inserted through your child's nose and goes to your child's stomach. Or, a doctor trained in stomach surgery may surgically insert an esophagogastrostomy tube.

  • Physical therapy. As the disease progresses, your child may benefit from physical therapy to help keep joints flexible and maintain as much ability to move (range of motion) as possible.

    Physical therapy can delay joint stiffness and reduce or delay the loss of function and pain that can result from shortened muscles.

  • Family support. Your child's Mayo Clinic treatment team can provide resources and information to help you and your family cope with your child's needs. Your team can help connect you to local support groups.
  • Follow-up care and coordination. Your Mayo Clinic doctor will provide treatment and follow-up care for your child and will coordinate the treatment and support plan with your child's primary care doctor or pediatrician.

Mayo Clinic works with hundreds of insurance companies and is an in-network provider for millions of people. In most cases, Mayo Clinic doesn't require a physician referral. Some insurers require referrals or may have additional requirements for certain medical care. All appointments are prioritized on the basis of medical need.

Doctors trained in pediatric neurology work with doctors trained in physical medicine and rehabilitation and genetics to treat children who have Tay-Sachs disease at Mayo Clinic.

For appointments or more information, call the Central Appointment Office at 507-538-3270 7 a.m. to 6 p.m. Central time, Monday through Friday or complete an online appointment request form.

See information on patient services at Mayo Clinic in Minnesota, including transportation options.

Oct. 21, 2014