How many people are affected by Tay-Sachs disease in the US?

How many people are affected by Tay-Sachs disease in the US?

And finally for everyone in the general population studies have shown there is a one in 250 chance that you carry the Tay-Sachs gene. In the US alone there are over 1.2 million Tay-Sachs carriers and the vast majority of those people have never heard of the disease.

Where does Tay-Sachs disease affect?

Tay-Sachs disease affects the nerve cells in the brain and spinal cord. Babies with Tay-Sachs lack a particular enzyme, which is a protein that triggers chemical reactions in cells. The lack of the enzyme, hexosaminidase A, causes a fatty substance to collect.

What ethnicity is most affected by Tay-Sachs disease?

Tay-Sachs disease is a rare inherited condition that mainly affects babies and young children. It stops the nerves working properly and is usually fatal. It used to be most common in people of Ashkenazi Jewish descent (most Jewish people in the UK), but many cases now occur in people from other ethnic backgrounds.

What are the odds of being a Tay-Sachs carrier?

If both parents are carriers and their child inherits the defective Hex-A gene from each of them, the child will have Tay-Sachs disease. When both parents are carriers of the defective Tay-Sachs gene, each child has a 25 percent chance of having Tay-Sachs disease and a 50 percent chance of being a carrier.

Do both parents have to be carrier for Tay-Sachs?

Both parents must be TS carriers to be at risk for a baby with TS. If one parent has a negative (normal) test result, the chance that a baby will have Tay-Sachs disease is very small. Testing can be done at any Kaiser Permanente laboratory. A genetic counselor will let you know how to arrange testing.

What kind of disease is Tay Sachs disease?

Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A).

How old do you have to be to die from Tay Sachs?

By the time a child with Tay-Sachs is three or four years old, the nervous system is so badly affected that death usually results by age five. A much rarer form of Tay-Sachs, Late-Onset Tay-Sachs disease, affects adults and causes neurological and intellectual impairment. Only recently identified, the disease has not been extensively described.

How often does Tay Sachs occur in the general population?

The Tay-Sachs gene occurs in the general population at a rate of 1/250. Tay-Sachs “breeds true” in a family. If one child is diagnosed with Infantile Tay-Sachs, the other children are only at risk for the infantile form. One set of parents could not have children with both the infantile and juvenile forms of the disease.

How does infantile Tay Sachs differ from Juvenile Tay Sachs?

Infantile Tay-Sachs is typically the absence of the HexA enzyme. This differs from the Juvenile and Late Onset forms of Tay-Sachs when the mutations allow the HexA enzyme to function a little bit.

What is the life expectancy of someone with Tay Sachs disease?

Tay Sachs disease is an autosomal recessive, neurodegenerative disease cause by excessive storage of Gm2 ganglioside withinn cell lysomes. Normal motor function first few months of life following by progressive weakness, starting at 2 to 6 months of age. Life expectancy is 2 to 5 years.

What is the prognosis for Tay Sachs disease?

Tay-Sachs disease is a progressive neurodegenerative disorder. The classic infantile form is usually fatal by age 2 or 3 years. Death usually occurs due to intercurrent infection. In the juvenile form, death usually occurs by age 10-15 years; preceded by several years of vegetative state with decerebrate rigidity.

What are the signs of Tay Sachs disease?

Early signs and symptoms of Tay-Sachs disease can include: Loss of muscle tone. Exaggerated response to sudden noises. Lack of energy. Loss of motor skills, such as the ability to roll over, crawl, reach for things or sit up.

What are the symptoms of Tay Sachs?

Adult Tay-Sachs is the mildest form. Symptoms appear during adolescence or adulthood. People with the adult form of Tay-Sachs disease usually have these symptoms: muscle weakness. slurred speech. unsteady gait. memory problems. tremors.