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Causes, symptoms and treatment of this fatal genetic disease

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Tay-Sachs disease is a rare inherited disease that is diagnosed in children around the age of six months. At high mortality, this disease is characterized by neurological problems, when some nerve cells or neurons die due to deficiency of the enzyme hexazaminidase A. This causes excessive accumulation of lipids in the brain. These lipids are fatty acids known as gangliosides. When these unnecessary gangliosides accumulate, a malfunction occurs central nervous system begins to occur, leading to this disorder. The most common form of Tay-Sachs disease is the childhood form, which begins with decreased vision, which further leads to loss of skills. Over time, babies may begin to lose full vision, with the onset of involuntary muscles spasms and rigid movements. Eventually they stop responding to the environment. By the age of three or five, life-threatening complications begin to occur, which eventually lead to respiratory failure and death. There is currently no cure for Theo Sachs, but studies to identify the causes of the disorder and deterioration are being studied. Extensive research is also underway on gene therapy or bone marrow transplant procedures so that Theo Sachs treatment can be developed in the future.

Symptoms of Theo Sachs

By four to six months, babies are growing normally. After that, the following symptoms begin to appear:

  • The baby cannot sit, rolls over and stops crawling
  • The child is very scared and reacts strongly to loud sounds
  • Decreased vision does not allow the child to focus on objects
  • A cherry red spot was noticed in his eyes.
  • The baby begins to have difficulty swallowing
  • Seizures begin before a child reaches 2 years of age
  • Loss of mental function, hearing and vision
  • Sharp muscle weaknessparalysis and vision loss under 5 years of age

Read also: Hearing impairment: causes, symptoms and treatment

Causes of Thea-Sachs disease

Genes are codes that are passed from parents to children. They are responsible for features 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 that instructs the body to create an enzyme known as Hex-A. This enzyme prevents the accumulation of gangliosides in the brain. Even one healthy copy of this gene is enough to make Hex-A protein. However, if infants receive non-functioning copies of the gene from both parents, they cannot create the Hex-A protein, leading to the formation of gangliosides that cause brain damage. If both mother and father are carriers of Tay-Sachs disease, the probability of having a child with Tay-Sachs is more than twenty-five percent.

Diagnosis of Tay-Sachs disease

In the case of pregnant women: To exclude the possibility of Theo-Sachs disease, chorionic villus bioplexy is performed. The doctor takes a sample amniotic fluid which surrounds the child and tests him. If the tests do not detect Hex-A protein, the child is definitely affected by Theo-Sachs. If tests confirm Hex-A, the child will not have the disease.

In the case of a newborn: The usual blood test is performed in addition to checking the symptoms and family history of the child. The most important thing is that the child’s eyes are checked for cherry red spots. Traces of any such stain are confirmed by Tay-Sachs.

Read also: Sample of chorionic villi: reasons for this prenatal testing and what to expect

Theo Sachs Treatment

There is currently no cure for this genetic disease, but there are certain programs that can help control some of the symptoms. Speech therapists support the sucking and swallowing reflex. If the baby has trouble swallowing, or if the baby inhales food or fluid into the lungs while eating, insert a feeding tube. Chest physiotherapy is done that helps break down mucus in the lungs. It can also improve airway health. A child’s quality of life can also be improved through proper nutrition, musicand mind-sharpening activities.

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