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

The condition is usually fatal by around 3 to 5 years of age, often due to complications of a lung infection (pneumonia). Rarer types of Tay-Sachs disease start later in childhood (juvenile Tay-Sachs disease) or early adulthood (late-onset Tay-Sachs disease).

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What is life like with Tay-Sachs disease?

As the disease progresses, development slows and muscles begin to weaken. Over time, this leads to seizures, vision and hearing loss, paralysis, and other major issues. Children with this form of Tay-Sachs disease typically live only a few years.

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Can people with Tay-Sachs disease have children?

Some people carry the genetic mutation that causes Tay-Sachs, but do not develop the full-blown disease. A child can only have Tay-Sachs disease if both parents are carriers of the gene.

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How rare is Tay-Sachs disease?

In the general population, the carrier rate for Tay-Sacks disease is approximately 1 in 250-300 people.

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Is Tay-Sachs a disability?

A child diagnosed with Tay Sachs Disease, Infantile Type will automatically qualify for Social Security Disability benefits, because the SSA has determined that it fits the criteria for a Compassionate Allowance.

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Tay-Sachs disease - causes, symptoms, diagnosis, treatment, pathology

35 related questions found

What does Tay-Sachs disease do to a babies brain?

Infants with this condition develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience involuntary muscle twitches (myoclonic jerks), seizures, difficulty swallowing (dysphagia), vision and hearing loss, and intellectual disability.

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How Does Tay-Sachs cause death?

Children born with Tay-Sachs often die by age 4, usually from complications of pneumonia. There's no cure, with treatment aimed at supporting the child and keeping them comfortable. Genetic testing is available for couples who may face a higher risk for having a baby with Tay-Sachs.

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What type of people get Tay-Sachs?

Anyone can be a carrier of Tay-Sachs. But, the disease is most common among people with Ashkenazi Jewish ancestry. One in every 27 members of the population carries the Tay-Sachs gene. Tay-Sachs is divided into infantile, juvenile, and adult forms, depending on the symptoms and when they first appear.

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Can the Tay-Sachs disease be cured?

There is no cure for Tay-Sachs disease, and no treatments are currently proved to slow progression of the disease. Some treatments can help in managing symptoms and preventing complications. The goal of treatment is support and comfort.

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What can be done for a person with Tay-Sachs disease?

Presently there is no specific treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.

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How many babies are born with Tay-Sachs?

In the general population about one out of every 320,000 babies born has Tay-Sachs disease. Approximately one in 30 Ashkenazi Jews is a carrier of the gene that causes the disease. Tay-Sachs is also more common among certain French-Canadian, Pennsylvania Dutch, and Cajun families.

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Can you get Tay-Sachs if only one parent is a carrier?

If only one parent passes the defective gene to the child, the child is called a carrier. They will not be sick, but may pass the disease to their own children. Anyone can be a carrier of Tay-Sachs. But, the disease is most common among people with Ashkenazi Jewish ancestry.

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What is the outlook for patients with Tay-Sachs disease?

Tay-Sachs disease (TSD) is a genetic condition that affects the nervous system. It becomes progressively worse over time. Symptoms usually first appear at around six months of age in previously healthy babies. The life expectancy for children with TSD is around five years of age.

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Can a baby survive Tay-Sachs disease?

Babies born with Tay-Sachs develop as expected in the first 3 to 6 months of life. Then, within months to a few years, they lose the ability to see, hear, and move. By age 2, most start having seizures. Unfortunately, children with the condition usually do not live past 5 years of age.

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How many forms of Tay-Sachs disease are there?

Tay Sachs disease manifests in a wide spectrum, and it has infantile, juvenile, and adult-onset types. Infantile Tay Sachs is a prototype of degenerative disease of grey matter in infancy. The infant is usually normal at birth, and the symptoms start between 3 to 6 months but can manifest as early as one week of life.

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Why is there no cure for Tay-Sachs disease?

Aggressive medical treatment can extend survival but doesn't improve neurological function. The only effective way to treat Tay-Sachs is to restore the HexA enzyme in the brain. This is difficult, however, because the blood-brain barrier prevents most molecules from passing into the brain.

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What are Ashkenazi eyes?

I have hazel-green eyes—“Ashkenazi eyes,” people tell me. These eyes and light skin conceal my Iraqi-Indian heritage, rendering half of me invisible. Before speaking with me about my experience or background, most people presume I am Jewish, and by that they mean Ashkenazi or white.

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What is the probability that a child will be born with Tay-Sachs if the child's mother is a carrier and the child's father is normal non carrier )?

When both parents are TS carriers, there is a 1 in 4 (25%) chance for a baby to develop Tay-Sachs disease. There is also a 3 in 4 (75%) chance that a baby will not have TS. If your partner is a TS carrier, you will be offered prenatal testing to find out if your baby could have Tay-Sachs.

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What does a child inherit from their father?

We inherit a set of 23 chromosomes from our mothers and another set of 23 from our fathers. One of those pairs are the chromosomes that determine the biological sex of a child – girls have an XX pair and boys have an XY pair, with very rare exceptions in certain disorders.

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Where did Jews come from?

Jews originated as an ethnic and religious group in the Middle East during the second millennium BCE, in a part of the Levant known as the Land of Israel.

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What is so special about Ashkenazi Jews?

Most people with Ashkenazi ancestry trace their DNA to Eastern and Central Europe. But many also have Middle Eastern ancestry, which is just one reason for their genetic “uniqueness.” It's clear that people with European ancestry are genetically distinct from those of Asian or African descent.

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What religion is Ashkenazi?

One of two major ancestral groups of Jewish individuals, comprised of those whose ancestors lived in Central and Eastern Europe (e.g., Germany, Poland, Russia). The other group is designated Sephardic Jews and includes those whose ancestors lived in North Africa, the Middle East, and Spain.

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Why does Tay-Sachs cause blindness?

Since ganglion cells are absent in the foveolar region, this area retains the normal reddish appearance, producing the cherry-red spot. Axonal decay and loss of the ganglion cells leads to optic atrophy and blindness.

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Can gene therapy cure Tay-Sachs?

Gene Therapy Approach

Gene therapy is being researched to potentially treat both Tay-Sachs and Sandhoff disease. Gene therapy aims to be a one-time treatment that could slow or stop disease progression by delivering working HEXA and HEXB genes into the cells using a viral vector.

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