Causes, symptoms and treatment of this fatal genetic disorder

Tay-Sachs disease is a rare inherited disorder that is diagnosed in babies around six months of age. With a high mortality rate, this condition is characterized by neurological problems, when certain nerve cells or neurons die due to a deficiency of an enzyme called hexosaminidase A. This causes an excessive accumulation of lipids in the brain. These lipids are fatty acids known as gangliosides. When these unneeded gangliosides accumulate, central nervous system malfunction begins to occur, resulting in this disorder. The most common form of Tay-Sachs disease is the infantile form, which begins as reduced vision and leads to loss of abilities. Over time, babies can begin to lose their vision altogether, with involuntary muscle spasms and stiff movements. Eventually, they stop responding to their surroundings and environment. Between three and five years of age, life-threatening complications begin to occur, eventually leading to respiratory failure and death. Currently, there is no cure for Tay-Sachs, but research is being studied to identify the causes of the disorder and the impairment. Extensive research is also being done on gene therapy or bone marrow transplant procedures so that Tay-Sachs treatment may be developed in the future.

Tay-Sachs symptoms

Until four to six months of age, babies grow normally. Then, the following symptoms begin to appear:

  • The baby cannot sit up, turn over and stops crawling.
  • The baby is very afraid and overreacts to loud noises.
  • Reduced vision prevents the child from concentrating on objects.
  • A cherry red spot is noticeable in the eyes.
  • The baby begins to have difficulty swallowing.
  • Seizures begin when the child is 2 years old.
  • Loss of mental function, hearing and sight.
  • Acute muscle weakness, paralysis, and vision loss at the age of 5 years

Also Read: Auditory Processing Disorder: Causes, Symptoms, and Treatment

Causes of Tay-Sachs disease

Genes are codes that are passed from parent to child. They are responsible for characteristics such as eye color, skin color, blood type, hair type, and gender. Our body is made up of certain genes called HEXA. Healthy adults have two healthy versions of this gene, which instructs the body to create an enzyme known as Hex-A. this enzyme prevents the accumulation of gangliosides in the brain. Even a single healthy copy of this gene is enough to make the Hex-A protein. However, when babies get defective copies of the gene from both parents, they cannot create the Hex-A protein, which results in the formation of gangliosides that cause brain damage. When both the mother and the father are carriers of Tay-Sachs disease, the chances of the child being born with Tay-Sachs are more than twenty-five percent.

Diagnosis of Tay-Sachs disease

For pregnant women: Chorionic villus sampling is done to rule out the possibility of Tay-Sachs. The doctor takes a sample of the amniotic fluid that surrounds the baby and analyzes it. If the tests do not find the Hex-A protein, the baby is likely affected by Tay-Sachs. If the tests confirm Hex-A, the baby will not have the disease.

In the case of a newborn: A routine blood test is done in addition to checking the baby’s symptoms and family history. Most importantly, the baby’s eyes are checked for a cherry-red spot. Traces of such a place confirm Tay-Sachs.

Also read: Chorionic villus sampling: reasons for this prenatal test and what to expect

Tay-Sachs treatment

Currently, there is no cure for this genetic disease, but there are certain programs that may help control some of the symptoms. Speech-based therapies keep the sucking and swallowing reflex active. When the child has trouble swallowing, or when the child breathes food or liquid into the lungs while eating, feeding tubes are inserted. Chest physiotherapy is performed to help break up mucus in the lungs. It can also improve respiratory health conditions. A child’s quality of life can also be improved through proper nutrition, music, and mind-sharpening activities.

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