Tay-Sachs Disease- Symptoms, Life Expectancy, and Genetic Testing
Tay Sachs Disease is a rare, inherited disorder that causes damage to nerve cells in the brain and spinal cord. It usually begins around 6 months of age, with symptoms like developmental delays, hearing and vision loss.
Impact of Gene Variants
The disease is caused by a mutation in the HEXA gene, which codes for an enzyme called hexosaminidase A (Hex-A). This enzyme is needed to break down a substance called GM2 ganglioside. When the enzyme is not functional or not made, GM2 ganglioside builds up in the nerve cells, causing the symptoms of the disease.
Ways to Recognize Problems
Problems with Tay Sachs Disease can be identified through symptoms like a low white blood cell count or increased susceptibility to infection.
Symptoms of Tay Sachs Disease typically emerge in infancy, with affected infants failing to reach developmental milestones.Over time, these infants may experience progressive deterioration of motor skills, leading to paralysis and eventual death.
Genetic testing can also help identify individuals who might have adverse reactions to certain drugs.
Ways to Improve
There is no cure for Tay Sachs Disease. However, treatments can help manage symptoms and prevent complications. The goal of treatment is support and comfort
Did you know
Tay-Sachs disease is particularly common in the Ashkenazi Jewish population.Studies estimate that approximately 1 in 300 people carry the genetic variant (mutation) responsible for Tay-Sachs disease. But the actual number of children born with Tay-Sachs disease is low, making the condition rare.
