Faces Of The Disease - Types Of Tay Sachs
Tay Sachs is a genetic disorder that occurs primarily in infants and rarely in adults. This disorder causes degradation in the human body and cuts off all the vital body functions one by one. The disease attacks the central nervous system and causes defects in the vision, speech and movement of the affected person.
Symptoms can be noted from the sixth month of the child's birth and can rapidly worsen till the 2nd year. The disease generally results in the death of the infant at the age of four or five. Tay Sachs, being a genetic disease, has to be inherited and can not be contracted in any other conceivable way. It is prevalent among the members of specific communities who lack one of the primary enzymes responsible for growth in the body. These primary enzymes generally oversee the destruction of unwanted cells and proteins in the human body and hence contribute towards the overall growth. The absence of even one of these enzymes can affect the body enormously, and trigger off the condition called Tay Sachs disease.
The disease is of three types overall: Type 1 (Infantile), Type 2 (Juvenile) and Type 3 (Adult). In the first case, the deficiency of the enzyme Hexosaminidase, results in gangliosides accumulating in the central nervous system. This form of Tay Sachs generally usually shows a complete deficiency in the activity of beta-Hexosaminidase. Other forms show only a partial deficiency in this regard.

Type 1 Tay Sachs occurs during the first six months after childbirth and exhibits many of the basic and classic symptoms. The first symptom is temporary and gradually permanent blindness. The heart enlarges and several lung infections come to light. The child's face becomes doll-like and disorientation sets in mentally. There is no treatment for his type of Tay Sachs disease, where the overall regression is rapid and life threatening. Type 1 Tay Sachs can be easily identified with the help of various neurological symptoms. The affected child usually has poor control over its head, and can not crawl, sit or turn over. It loses its eye function gradually and does not respond to external stimuli with the passage of time. There is general muscle weakness and cherry red spots usually can be seen in the eye. Children suffering from Type 2 Tay Sachs also assume a frog like position while resting.
Type 2 Tay Sachs is also called as the Juvenile form of Tay Sachs. In this case too, there is a complete deficiency in the Hexosaminidase activity, while some other forms usually have partial deficiency in this regard. The deficiency of the beta-Hexosaminidase enzyme usually results in gangliosides accumulating in the central nervous system. This leads to a breakdown in all the vital body functions and leads to the affected patient going into a vegetative state. Ataxia occurs, and various motor skills gradually deteriorate. Speech is then affected, and seizures occur at the end of the first decade. The loss if vision is slower when compared to that in the infantile form. In Type 3 Tay Sachs disease, that is, Adult Tay Sachs disease, motor weakness turns much more severe, the intelligence of the patient is severely compromised. Changes appear in the personality and neuron dysfunction occurs. There is no treatment or cure for all three kinds and stages of Tay Sachs disease, however, steps can be taken for preventing the disease.
