Classic Infantile Tay-Sachs
Classic Infantile Tay-Sachs is the most common form of this rare disease and is characterized by very little to no Hexosaminidase-A (Hex-A) enzyme activity. It is important to note that Tay-Sachs ‘breeds true in a family,’ which means if a family has a child affected by Classic Infantile Tay-Sachs their other children will only be at risk for having Classic Infantile Tay-Sachs. One set of parents could not have a child affected by Classic Infantile and Juvenile or Late Onset Tay-Sachs.
A baby with Tay-Sachs disease appears normal at birth and seems to develop normally until about 6 months of age. The first signs of Tay-Sachs disease can vary and are evident at different ages in affected children. Initially, development slows, there is a loss of peripheral vision, and the child exhibits an abnormal startle response. By about 2 years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually regresses, losing skills one by one, and is eventually unable to crawl, turn over, sit, or reach out. 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.
Additional Informational Links
The following online resources may be helpful in learning more about Infantile Tay-Sachs Disease or locating support:
National Institute of Neurological Disease and Stroke
National Organization of Rare Diseases
Online Mendelian Inheritance in Man