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Tay-Sachs Disease

Tay-Sachs disease is a progressive neurologic genetic disorder. The majority of Tay-Sachs disease cases are diagnosed in infancy and result in early childhood death. Sandhoff disease is a related condition that has the same features as Tay-Sachs disease.  Carriers of Tay-Sachs or Sandhoff disease have no symptoms themselves but are at risk of having a child with the condition.  Your risk of being a carrier depends on your family history and ethnicity.

Symptoms

• Muscle weakness beginning at age 3-6 months
• Exaggerated startle reflex
• “Cherry-red” spot in eyes
• Seizures
• Vision loss, hearing loss
• Inability to swallow, eventual paralysis

Causes/Risk Factors

• Family history of Tay-Sachs disease
• High risk ethnic background
  
  • Ashkenazi (Eastern European) Jews
  • French Canadians
  • Old Order Amish
  • Cajun

Genetic Test/Carrier Screen

The following genetic tests may be appropriate based on your personal and/or family history.

• Tay-Sachs disease
  
  • HEXA mutation analysis
  • Hexosaminidase A enzyme analysis
• Sandhoff disease (same neurologic findings)
  
  • Hexosaminidase A and B enzyme analysis

See our pre-conception and prenatal services

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule genetic counseling appointment online
• Or call 1-800-975-4819
• Send email

Learn More

NIH Genetics Home Reference Page

National Institute of Neurological Disorders and Stroke

Support Groups

National Tay-Sachs and Allied Diseases Association