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
National Tay-Sachs and Allied Diseases Association