What is Tay-Sachs Disease or GM2 Gangliosidosis?

Tay-Sachs Disease, also known as GM2 gangliosidosis, is a type of lipid metabolism disorder passed from parent to child. It’s caused by the absence of the enzyme hexosaminidase-A (Hex-A). The absence of Hex-A causes the lipid GM2 ganglioside to build up in the nerve cells of the brain, ultimately damaging these cells and, consequently, the mental and physical capabilities of the child. Tay-Sachs Disease can occur in one of three ways:

Infantile Form

This is the most common form of Tay-Sachs and it occurs when an infant has little to no amounts of Hex-A. Symptoms typically appear within the first 3 to 6 months, including:

  • Noise sensitivity
  • Mental and physical regression
  • Seizures
  • Muscle weakness
  • Paralysis
  • Unresponsiveness
  • Blindness

Juvenile Form

Less common than infantile form, juvenile form occurs in children between the ages of 2 and 5 years. They have little enzyme activity and they can suffer from the following symptoms:

  • Frequent infections
  • Behavioral problems
  • Mental and physical regression
  • Seizures
  • Blindness
  • Unresponsiveness

Late Onset Form

Late onset form, also known as adult or chronic form, can develop anywhere from childhood to adulthood. Symptoms appear slowly, including:

  • Clumsiness and loss of coordination
  • Muscle weakness
  • Tremors
  • Difficulty speaking or swallowing
  • Uncontrollable muscle spasm and movements
  • Schizophrenia
  • Impaired intellect
  • Dementia

How Do You Get Tay-Sachs Disease?

Tay-Sachs is inherited through an autosomal recessive pattern, meaning both parents must be carriers and both genes must be passed down to the child. While Tay-Sachs can occur in any population, the Ashkenazi Jewish, French Canadian, Old Order Amish, and Louisiana Cajun communities are particularly vulnerable.

How is Tay-Sachs Disease Diagnosed?

A blood test is typically administered to test for Tay-Sachs. This can analyze either a person’s Hex-A levels or their DNA. Prenatal testing is also available around the 11th week of pregnancy.

Is There a Treatment?

Presently, there is no cure, but there is treatment available to alleviate some of the symptoms associated with the disease. These can include anti-seizure medications or physical therapy.

Helpful Resources

Center for Jewish Genetics

Tay-Sachs Disease on NORD

National Tay-Sachs and Allied Diseases Association

Genetic and Rare Diseases Information Center

Leukodystrophy Care Network