Tay-Sachs disease is caused by a deficiency of hexosaminidase, an enzyme that is important in the metabolism of gangliosides (a type of chemical substance found in nerve tissue).

These gangliosides, particularly ganglioside GM2, then accumulate in the brain, causing neurological deterioration. Tay-Sachs disease is inherited as a recessive gene, and 1 in 25 members of the Ashkenazi Jewish population carries the gene.

Tay-Sachs has been classified into infantile, juvenile, and adult forms, depending on the type of symptoms and when they first appear. The majority of people with Tay-Sachs have infantile forms.

Symptoms generally begin to appear when the child is 3 to 6 months old. The disease tends to progress rapidly, and the child usually dies by the age of 4 or 5 years.

• Loss of motor skills
• Increased startle reaction
• Decreased eye contact, blindness
• Deafness
• Dementia
• Listlessness
• Irritability
• Seizures
• Paralysis
• Decreased muscle tone (loss of muscle strength)
• Muscle function loss
• Delayed mental and social skills
• Slow growth

• Family history
• Physical examination
• Enzyme analysis of blood or body tissue for hexosaminidase levels
• Eye examination (reveals a cherry-red spot in the macula)

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

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.

Call for an appointment with your health care provider if your child experiences a seizure lasting less than 2-3 minutes or has other noticeable behavioral changes.