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 include increasing loss of coordination, progressive inability to swallow and breathing difficulties. Eventually, the child becomes blind, mentally retarded, paralyzed, and non-responsive to his or her environment. Death usually occurs between ages 2 and 5 from pneumonia and breathing
