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Tay Sachs disease is a genetic disease of the nervous system that can be fatal. It is an uncommon disease in the general population but, in Ashkenazi Jews, the carrier status is one in every 27 individuals, making it more likely to occur in that population.

The cause of Tay Sachs disease is the lack of the enzyme hexosaminidase A, which is a protein found in the nervous system that breaks down gangliosides in nervous tissue. Without this important enzyme, gangliosides, such as GM2, build up in the nerve cells of the brain. A defective gene on chromosome 15 is the cause of the disease and it is a chromosomal recessive gene so that both parents need to be carriers of the disease in order to cause it to happen. A total of twenty five percent of their children will get the disease if they procreate. Half of their children will be carriers of the disease and twenty five percent will be completely free of the abnormal gene. Carriers have no symptoms themselves.

Tay Sachs disease comes in infantile forms, juvenile forms and adult forms, depending on when the symptoms begin to form. The vast majority have the infantile form, with damage to the nerves beginning in utero. The symptoms begin when the child is three to six years of age and it gets worse very quickly. The child tends to die by the age of 4 to 5 years of age. Late onset Tay Sachs disease, when the disease occurs first in adulthood, is not common at all.

Symptoms of Tay Sachs disease include being deaf and eventually being blind. There is a loss of muscle strength and delayed social and mental skills. Dementia is likely. Increased startle reaction is possible in infants as is irritability or listlessness. There can be paralysis and a lack of intact motor skills. Seizures are possible at any age and children who have the disease do not grow very well.

Tay Sachs disease can be identified by doing a thorough history and physical examination. Doctors can do an enzyme analysis for the enzyme hexosaminidase level in the blood or body tissue. Eye examination can show a typical cherry red spot in the macula of the back of the eye.

There is no specific treatment for Tay Sachs disease, including no enzyme replacement yet available. Treatment is directed at improving symptoms so the patient is kept more comfortable. Mostly it is just a waiting game until the patient can no longer survive.

There are support groups for families with Tay Sachs disease patients in which parents and other loved ones can get support from other families that share the same experiences of dealing with the disease.

The prognosis of Tay Sachs disease is poor. Very few patients live past the ages of four to five years old and in older patients, the disease tends to progress so that death occurs within a few years of onset of the disease.

There is no way to prevent Tay Sachs disease. Individuals can be tested for carrier status and couples who are carriers can receive genetic counseling. There can be intrauterine testing for Tay Sachs disease with abortion of the infants known to have the disease. This can be done in early pregnancy using an amniocentesis or chorionic villi sampling. The tests return in a few days to weeks so that the infant with double markers for Tay Sachs disease can be aborted before the pregnancy continues to completion. Carriers and those free of Tay Sachs disease will have no symptoms and will be allowed to continue their growth in utero.

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Medical Negligence Solicitors

Our personal injury solicitors operate a specialist medical negligence compensation service. Our Tay-Sachs Disease solicitors deal with claims using a no win no fee arrangement which means that if you don�t win then you don�t pay them their professional costs. If you would like legal advice at no cost with no further obligation just complete the contact form or email our lawyers offices or use the helpline and a Tay-Sachs Disease solicitor will review your medical negligence compensation claim and phone you immediately.

HELPLINE: ☎ 1800 633 634

The author of the substantive medical writing on this website is Dr. Christine Traxler MD whose biography can be read here