Diseases - IlCat.org

Alberto Said:

a woman had sisiter who died of Tay-saches diseas( a rare disease). The woman is now worried that her unborn?

We Answered:

I would have advised her and the father to get screened right away. There is a very simple blood test to find the Tay-Sachs allele (I've had it done).

If she had a sister who died of it, her parents are heterozygous; her genotype would be Tt, tT, or TT, giving her a 2/3 chance of being a carrier. If the father of the child is not a carrier, then the possibility of an affected child is 0.

Brett Said:

Can anybody tell me about this disease?

We Answered:

Tay-Sachs disease, a heritable metabolic disorder commonly associated with Ashkenazi Jews, has also been found in the French Canadians of Southeastern Quebec, the Cajuns of Southwest Louisiana, and other populations throughout the world. The severity of expression and the age at onset of Tay-Sachs varies from infantile and juvenile forms that exhibit paralysis, dementia, blindness and early death to a chronic adult form that exhibits neuron dysfunction and psychosis.

Tay-Sachs is an autosomal recessive disease caused by mutations in both alleles of a gene (HEXA) on chromosome 15. HEXA codes for the alpha subunit of the enzyme b-hexosaminidase A. This enzyme is found in lysosomes, organelles that break down large molecules for recycling by the cell. Normally, b-hexosaminidase A helps to degrade a lipid called GM2 ganglioside, but in Tay-Sachs individuals, the enzyme is absent or present only in very reduced amounts, allowing excessive accumulation of the GM2 ganglioside in neurons. The progressive neurodegeneration seen in the varied forms of Tay-Sachs depends upon the speed and degree of GM2 ganglioside accumulation, which in turn is dependent upon the level of functional b-hexosaminidase A present in the body.

Naomi Said:

Autosomal recessive lethal traits include cystic fibrosis and Tay-Sach disease....?

We Answered:

you just answered you own question. if its "autosomal recessive" that means that the genetic trait is located on the autosome (not one of the sex chromosomes like X or Y - 22 pairs in humans) and you have to have two of them...meaning, one from each parent for it to show up phenotypically. thats what makes it recessive.

Wesley Said:

HOW ARE CAUSES AND ONSETS OF SYMPTOMS OF HUNTINGTON'S DISEASE DIFRRENT FROM THOSE OF PKU AND TAY SUCHS DISEASE?

We Answered:

These are all genetic diseases. Huntington's Disease presents in the middle years approx. age 40's. PKU and Tay Sachs present in infancy or at birth.

Rene Said:

What god thought Tay-Sach's Disease was a good idea?

We Answered:

The silence pretty much says it all.

Veronica Said:

what are the prognosis of the disease Tay Sach's disease?

We Answered:

The prognosis is terminal death no matter what. There is no cure for Tay Sachs disease currently

Alfred Said:

Tay Sach's disease?

We Answered:

Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain.

The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops.

Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs.
The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in.
Other neurological symptoms include dementia, seizures, and an increased startle reflex to noise.

Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.

all the best