Tay Sachs Disease
Tay Sachs Disease

Tay Sachs Disease: Definition, Symptoms, and Causes

Have you heard of Tay Sachs Disease? This is a rare disease that is passed from parent to child. Although it is rare, you need to understand and be aware of this disease.

Understanding it can help prospective parents to make the right decisions about their desire to have children.

What is Tay Sachs Disease?

Tay-Sachs is an uncommon genetic disorder characterized by problems in the nervous system.

This genetic disorder occurs due to the absence of enzymes that help break down fatty substances.

As a result, fatty substances accumulate in the brain and spinal cord, causing damage to these organs.

This genetic disorder is commonly experienced by infants. However, older children and older persons can also experience it.

This neurological disease in children is also degenerative. That is, the disease continues to progress and worsen over time.

In fact, in infants and children, the disease can be fatal. Babies who experience Tay-Sachs usually only survive until around the age of 4.

While children who experience this disease can generally survive until adolescence.

In older persons, the disease tends not to be as severe as in childhood.

Symptoms of Tay Sachs Disease

Tay-Sachs symptoms in infants, children, and older persons vary. In addition, the beginning of the appearance of symptoms in infants, children, and older persons is also not the same.

Symptoms of Tay-Sachs in infants

Tay-Sachs symptoms will usually appear when the baby reaches the age of 6 months. However, nerve damage already occurs since the baby is still in the womb.

The development of Tay-Sachs disease in the baby’s body is very fast. Usually, babies who have Tay-Sachs will die at the age of 4-5 years.

The following are the symptoms of Tay-Sachs in infants to watch out for:

  • Can’t hear
  • Blindness
  • Weakened muscle strength
  • The shock response that keeps increasing
  • Loss of muscle function
  • Stiff muscles
  • Late mental and social development
  • Slow growth of babies
  • The appearance of a red spot on the macula (the area near the center of the retina).

If a baby suffering from Tay-Sachs has convulsions or shortness of breath, take it to the hospital immediately or contact medical emergency services to prevent complications.

Symptoms of Tay-Sachs in adolescents and older persons

Compared to infants, Tay-Sachs cases in adolescents and older persons are extremely rare. In addition, the symptoms are considered mild.

Not only that, Tay-Sachs symptomatic forms are divided into three types, namely adolescent, chronic, and older persons.

Tay-Sachs symptoms in adolescents generally appear at the age of 2-10 years and the sufferer will live to the age of 15 years.

While Tay-Sachs chronic symptoms will usually appear at the age of 10, but the development of this type of Tay-Sachs is considered slow. Symptoms include muscle cramps, tremors, and difficulty speaking.

Meanwhile, Tay-Sachs symptoms in older persons are considered the mildest. Symptoms include:

  • Weak muscles
  • Slurred speech
  • Difficult to remember
  • Unbalanced walking
  • Tremor.

The severity and mortality rate of Tay Sachs disease in older persons varies, unlike in infants.

Causes of Tay Sachs Disease

Tay-Sachs occurs due to changes or mutations in genes that children get from their parents. The gene is called HEXA.

Under normal conditions, the HEXA gene gives instructions to the body to make one of an enzyme part called beta-hexosaminidase A.

This enzyme is necessary for the body to break down the fatty substance GM2 ganglioside.

Gene mutations in Tay-Sachs sufferers affect the ability of the beta-hexosaminidase A enzyme  to break down fatty substances.

As an effect, the fatty substance GM2 ganglioside accumulates in the spinal cord and brain and causes the death of neurons (nerve cells) in that part of the body.

These disorders and dead nerve cells then give rise to various symptoms associated with Tay Sachs disease.

The Cleveland Clinic said Tay Sachs disease generally occurs when a child gets two mutated HEXA genes from both parents.

One of the HEXA gene copy from the father as well as one copy from the mother.

This makes the HEXA gene in children unable to function properly completed until the above problems occur.

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Sources:
  1. Image: The original uploader was JDG at English Wikipedia., CC BY-SA 3.0 http://creativecommons.org/licenses/by-sa/3.0/, via Wikimedia Commons
  2. Video: ASGCT

Last Updated on June 10, 2022 Reviewed by Market Health Beauty Team