Tay-Sachs Disease

The Disease That Can't Be Cured

The Discovery of Tay-Sachs Disease

Tay-Sachs Disease a rare, deadly genetic disorder. It was first discovered in 1881 by an ophthalmologist named Warren Tay. He recognized the disease when he saw a cherry red spot on a patient's retina. In 1887, neurologist Bernard Sachs studied Tay-Sachs Disease a step further. Sachs' work described the cellular changes in Tay-Sachs Disease, as well as observing that most cases were babies with Eastern European Jewish origin.
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These are the people who first discovered Tay-Sachs Disease and how it works.

What is Tay-Sachs Disease?

Tay-Sachs Disease is a single gene mutation that effects the HEXA gene on chromosome 15. The HEXA gene gives instructions for making part of the enzyme called the beta-hexosaminidase which is crucial to the brain and spinal cord. Mutations in the HEXA gene disturb the activity of beta-hexosaminidase A which prevents the enzyme from breaking down GM2 ganglioside. As a result, the substance reaches toxic levels in the neurons in the brain and spinal cord causing destruction of the neurons. Both copies of the gene in each cell have mutations, so it is inherited in an autosomal recessive pattern. Parents of someone with Tay-Sachs Disease with an autosomal recessive condition each have one copy of the mutated gene but normally don't show symptoms of it.
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This is how Tay-Sachs Disease is carried through parents to offspring.

Signs and Symptoms of Tay-Sachs Disease

There are many symptoms of Tay-Sachs Disease. The most common forms of Tay-Sachs Disease is infantile TSD. The first symptoms are a floppy body position, shrill cry, decreased eye contact, and loss of motor skills. Then, the conditions get worse with seizures, enlarged head, deafness, vision loss, and difficulty swallowing. Another form of Tay-Sachs Disease juvenile onset which starts from 2 to 5 years old. The first side effects of juvenile onset TSD are the loss of the ability to speak, developmental delay, sleep issues, trouble walking, and loss of bowel control. Some other symptoms of juvenile onset TSD are slurred speech, loss of vision, seizures, ans physiatric problems.
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This child shows many of the symptoms of Tay-Sachs Disease like a floppy body position and decreased eye contact.

Does Tay-Sachs Disease effect one's life expectancy?

There are three different forms of Tay-Sachs Disease. The most common from is infantile-onset which is usually fatal by the age of four. Two other more rare forms of the disease are juvenile-onset and adult-onset. If someone has juvenile-onset TSD, their life expectancy is about 12 years old. If someone has adult-onset TSD, they develop the disease in their twenties and live no older than 60. Although it is an extremely rare disease, it is more popular in Ashkenzai (eastern-central European) Jewish heritage. It is also more common in some French-Canadian communities of Quebec, the Cajun population of Louisiana, and the Amish in Pennsylvania.
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This is an example of an infant with infantile-onset Tay-Sachs Disease.

How do you know if you have Tay-Sachs Disease?

To determine if someone has Tay-Sachs Disease, a doctor will ask about the child's symptoms and medical background. If the symptoms seem suspicious, then an exam will be done to look for a cherry red spot in the child's retina. The only other way to tell if someone has Tay-Sachs Disease is to test bodily fluids with blood tests.
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This is an example of the cherry red spot that is found on someone with Tay-Sachs Disease's eye.

How do you prevent the disorder?

So far, scientists have not discovered a cure for Tay-Sachs Disease. The only way to prevent one from inheriting Tay-Sachs Disease if to test the parents to see if they carry the gene that causes TSD. A parent who carries this gene can talk to a genetic counselor before having children. Also, there are many organizations that can help family's with this genetic disorder like the National Institute of Neurological Disorders and Stroke and the National Tay-Sachs and Allied Diseases Association.
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The National Tay-Sachs and Allied Diseases is just one of the many organizations out there to help children and families deal with Tay-Sachs Disease.