What is Tay Sachs, AB Variant?
Tay Sachs, AB Variant is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord (the central nervous system). Clinically, Tay Sachs, AB Variant is identical to Tay Sachs disease. What other names are used for Tay Sachs, AB Variant? Some of the other common names for Tay Sachs, AB Variant include: • GM2-gangliosidosis, AB Variant • AB Variant • Activator-deficient Tay Sachs disease • GM2 Activator Deficiency disease • GM2 gangliosidosis, type AB • Hexosaminidase activator deficiency A baby with Tay-Sachs, AB Variant disease appears normal at birth and seems to develop normally until about 6 months of age. Around 6 months of age, development slows and the child exhibits an abnormal startle response. The infant gradually regresses, losing skills one by one, and is eventually unable to crawl, turn over, sit, or reach out. By about 2 years of age, most children experience recurrent seizures and diminishing mental function. Other symptoms in