Tay-Sach's Disease

Tay-Sachs is caused by a defective gene. Genes are located on chromosomes and serve to direct specific developments and processes within the body. The genetic defect in Tay-Sachs disease results in the lack of an enzyme called hexosaminidase A. Without this enzyme, gangliosides cannot be broken down. They build up within the brain, interfering with nerve functioning. Because Tay-Sachs is a recessive disorder, only people who receive two defective genes (one from the mother and one from the father) will actually have the disease. People who have only one defective gene and one normal gene are called carriers. They carry the defective gene and thus the possibility of passing the gene and/or the disease onto their offspring.

Enzymes

It's caused by a defective gene where the body can't break down fatty substances.

Tay-Sachs disease is caused by total hexosaminidase A (Hex A) deficiency and it's an autosomal recessive disorder.

Macrocephaly, loss of motor skills, macular cherry red spot and increased startle reaction are some features of the infantile form, a fatal neurodegenerative disease.

Ataxia and dementia are features of the juvenile-onset with death by age 10-15 years.

The adult-onset consists of clumsiness in childhood, progressive motor weakness in adolescence and spinocerebellar, lower motor neuron symptoms and dysarthria in adulthood. Psychosis is common and intelligence declines slowly.

Screening for Tay-Sachs disease carriers is recommended in the Ashkenazi Jewish population.

Tay-Sachs disease does not have a significant gender preference; it affects males and females equally. However, it is more prevalent in individuals of Ashkenazi Jewish descent, as well as in certain other ethnic groups. The condition is caused by a genetic mutation, and both genders can be carriers. Therefore, the incidence is largely influenced by genetic factors rather than gender.

Yes Tay Sachs disease is a disease of codominance. If you have one defective form of the Hex-A gene, you will be able to function normally and will not have the disease. This is because you still create enough of the enzyme to function normally but it is only being produced at 50% the rate of someone with two normal Hex-A genes.

Laboratory tests are required to determine if you are a carrier of Tay Sachs Disease. A cherry red spot in your retina is a symptom of the disease itself.

red spot on the retina of the eye

no, it is an inhereted disease and is also recessive.

Tay-Sach's Disease/

Yes!!

Took my daughter there Saturday this past weekend and it is a scam!! Type in "the pronounced Tay" into google and you will get nothing but scam info!!

Tay-Sachs disease is a genetic disorder caused by a deficiency of the enzyme hexosaminidase A (Hex-A), leading to the accumulation of GM2 gangliosides in nerve cells. This imbalance disrupts normal cellular function, particularly in the central nervous system, resulting in neurodegeneration and severe neurological symptoms. The failure to maintain lipid metabolism homeostasis ultimately leads to progressive damage and loss of neurons, affecting motor skills, cognitive function, and often resulting in early death.

Eastern European Ashkenazi Jewish population. It is also found in Southeastern Canadians and Cajuns.

because that's the way God made him

Each year, about 16 cases of Tay-Sachs are diagnosed in the United States. Although Jews of central and eastern European descent are at the highest risk, it is now also common in non-Jewish populations, including people of French-Canadian/Cajun heritage.

Hayden Lord was born with it. If one letter in the DNA is "messed up" it can cause cetain proteins NOT to develop. Tay-Sach's disease causes fat to swell up in the brain. Hayden was blind, can't take in solid food and has at least 10 seizures a day. His parents are both carriers of the disease, which means that they can pass on the traits to their descendants. Hayden died before his third birthday.

Tay-sachs disease differs from an infectious disease because it is a hereditary disease, so it can only be passed from parents to their offspring.

lysosomal enzymes

In Tay-Sachs disease, a mutation that affects the alpha subunit of the enzyme causes a deficiency in HexA. Sandhoff disease is caused by mutations that affect the beta subunit, rendering both the HexA and HexB enzymes deficient.