Overview

Tay-Sachs disease is a rare disorder passed from parents to child. It’s caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the child's brain and affect the function of the nerve cells. As the disease progresses, the child loses muscle control. Eventually, this leads to blindness, paralysis and death.

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, doctors strongly recommend genetic testing and genetic counseling.

Symptoms

In the most common form, an infant usually begins showing symptoms by about 6 months of age. Signs and symptoms of Tay-Sachs disease can include the following:

  • Loss of motor skills, including turning over, crawling and sitting up
  • Exaggerated reactions when the baby hears loud noises
  • Seizures
  • Vision and hearing loss
  • "Cherry-red" spots in the eyes
  • Muscle weakness
  • Movement problems

When to see a doctor

If your child has any of the signs or symptoms listed above, schedule an appointment with your child's doctor.

Causes

Tay-Sachs disease is a genetic disorder that is passed from parents to their children. It occurs when a child inherits the gene from both parents.

Risk factors

Risk factors for Tay-Sachs disease include having ancestors from:

  • Eastern and Central European Jewish communities (Ashkenazi Jews)
  • Certain French Canadian communities in Quebec
  • Old Order Amish community in Pennsylvania
  • Cajun community of Louisiana

Tay-Sachs disease care at Mayo Clinic

Dec. 08, 2017
References
  1. National Library of Medicine. Tay-Sachs disease. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/tay-sachs-disease. Accessed Aug. 6, 2017.
  2. Learning about Tay-Sachs disease. National Human Genome Research Institute. https://www.genome.gov/10001220/. Accessed Aug. 6, 2017.
  3. Tay-Sachs disease information page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Tay-Sachs-DiseaseInformation-Page. Accessed Aug. 6, 2017.
  4. Riggin EA. Allscripts EPSi. Mayo Clinic, Rochester, Minn. July 26, 2017.