Tay-Sachs Disease

Treatment

Because there is no cure for Tay-Sachs disease, the goal of treatment is to make the patient comfortable. Treatment options include:

Respiratory care

Patients with Tay-Sachs disease frequently will accumulate mucus in their lungs. To reduce the lung mucus, respiratory therapists at Mayo Clinic have extensive experience in providing chest physiotherapy (CPT) and training families to provide CPT to their child when at home.

Children with Tay-Sachs disease are at high risk of respiratory infections, which affect the lungs and cause breathing problems, and need to be carefully monitored and provided with prompt treatment.

Assistive devices

Respiratory problems may also develop when children with Tay-Sachs disease swallow food or liquid into their lungs while eating (aspiration). Assistive feeding devices may be necessary. Two options:

• Nasogastric (NG) tube
  This is a tube inserted through the nose to the stomach.
• Percutaneous Esophago-Gastrostomy (PEG) tube
  PEG tubes are placed through the abdomen into the stomach during a surgical procedure that is commonly done by a physician specializing in gastroenterology or radiology. This option is more permanent than the NG tube.

Medication

To reduce the patient's symptoms, a number of prescription medications are available, including seizure medications.

Physical therapy

As Tay-Sachs progresses, the patient may receive physical therapy to stimulate the muscles and joints, such as physically moving the affected body parts.

The purpose of physical therapy is to help keep joints flexible and maintain as much ability to move (range of motion) as possible. This can help to delay joint stiffness, or contractures, and reduce or delay the loss of function or the pain that can result from contractures.

Support for the family

Family members of patients with Tay-Sachs disease need help in coping with the disease and the challenges it represents. Mayo Clinic offers various resources, education and information and will also help family members get connected to local support groups.

Coordination with primary care physician

Mayo Clinic provides treatment and follow-up care for patients with Tay-Sachs disease, and coordinates with the patient's primary care or local physician.