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Tay-Sachs disease

Tay-Sachs disease

Tay-Shachs disease is a hereditary metabolic disorder, most commonly in the people of Central and Northern Europe, which attacks the central nervous system through an abnormal accumulation of fat in the brain. Genetic anomaly manifests from the first year of life and produces regression of all intellectual, motor and mental functions.

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Responsible for Tay-Sachs disease is the lipid called ganglioside GM2, accumulated in the brain due to incorrect activities of the enzyme that normally dissolves it. This serious hereditary dysfunction results in devastating neurological effects.

Evolution of Tay-Sachs disease

Paradoxically, children born with Tay-Shachs disease appear normal at birth, but gradually become inattentive and passive, visibly apathetic. Motor skills progressively deteriorate and nervous breakdowns occur. In advanced stages, blindness and general paralysis are triggered, the next step being death. The disease can be detected by tests, as is the Tay-Sachs gene carried by the mother.

The risk of Tay-Sachs disease transmission

Some people are carriers of the genetic mutation that causes Tay-Sachs disease, but its evolution is stagnant at some point. Among the Ashkenazi Jews, 1 in 27 individuals has the ganglioside gene GM2.

Globally, a man of 250 is born with this hereditary defect. A child will develop Tay-Sachs disease only if both parents are gene carriers.

When a couple gives birth to a child, they are:

  • 50% chance that the baby will inherit the gene, but not do the disease;
  • 25% chance that the child will not inherit the gene;
  • 25% chance that the baby suffers from this disease.

Diagnosis of Tay-Sachs disease in pregnancy

Pregnant women can find out before birth whether or not their baby is prone to the disease. Between weeks 10 and 12 of pregnancy, the future mother may request a sample from the placenta to be analyzed in the laboratory.

Between 15 and 18 weeks of pregnancy, amniocentesis is the one that can diagnose the gene that causes Tay-Sachs disease.

Symptoms of Tay-Sachs disease

Children are generally medically investigated for Tay-Sachs disease when they have hearing, sight and movement problems. Blood tests and a physiological examination help establish a safe diagnosis.

A sick baby develops normally up to 3-6 months. In the immediate period, he gradually loses his ability to see, hear and move. A red dot appears behind the eyes, and the child no longer smiles, no longer walks the bush, no longer rolls and no longer tries to reach various objects with the handcuffs.

Up to 2 anisors, the child may suffer injuries so large that he can no longer move. Death usually occurs before the baby turns 5 years old. In a milder form of the disease, muscular atrophy and impaired speech ability appear, but sight, hearing and other mental capacities remain intact.

Treatment of Tay-Sachs disease

Unfortunately, there is no cure for Tay-Sachs disease. Doctors can help the sick child to withstand the symptoms through drug therapy, meant to relieve pain, prevent injury, and control muscle spasm.

Scientists are currently studying new ways to stop the disease from evolving and to detect it early, before or immediately after birth.

Do you know a similar case? Let us know in the comments section!