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You are here : 3-RX.com > Medical Encyclopedia > Diseases and Conditions > Tay-Sachs Disease: Prevention & Expectations

Tay-Sachs Disease

Alternate Names : Hexosaminidase A Deficiency, GM2-Gangliosidosis, Type I

Tay-Sachs Disease | Symptoms & Signs | Diagnosis & Tests | Prevention & Expectations | Treatment & Monitoring

What can be done to prevent the disease?

The enzyme defect that causes Tay-Sachs disease is present from the time of conception. There is no way to prevent the disease in children who have already been born.

What are the long-term effects of the disease?

The first signs of Tay-Sachs disease is the "startle reflex." This sign is present by the time a child is 6 months old. Shortly after the appearance of the "startle reflex," affected children are unable to roll over. They gradually lose their ability to make purposeful movements. By the time they are 1 year old, affected children begin to have seizures and lose their vision. By the time they are 2 years old, they enter a vegetative state and are unable to respond to their environments. Most children do not survive past their third birthday.

What are the risks to others?

Parents who have had an affected child with Tay-Sachs disease are at risk to have other affected children. One in four pregnancies for such parents is expected to result in an affected child. Genetic counseling is useful for relatives of affected children.

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Tay-Sachs Disease: Diagnosis & Tests


Tay-Sachs Disease: Treatment & Monitoring

Author: Ronald J. Jorgenson, DDS, PhD, FACMG
Reviewer: Eileen McLaughlin, RN, BSN
Date Reviewed: 08/06/01

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