Tay Sachs Disease

December 22 21:49 2019 Print This Article

Tay – Sachs disease (abbreviated TSD, also known as “GM2 gangliosidosis “) is a genetic disorder, fatal in its most common variant known as Infantile Tay-Sachs disease. Taking full advantage of these capabilities requires new experimental methods and theoretical skillsets, but ultimately offers biologists the power to achieve deeper levels of understanding than otherwise imaginable. Other neurological symptoms include dementia, seizures, and an increased startle reflex to noise.

These substances build up and gradually destroy brain and nerve cells, until the entire central nervous system stops working Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Tay-Sachs disease. As in the infantile form, mental abilities and coordination are affected. These mutations reach significant frequencies in several populations. French Canadians of southeastern Quebec and Cajuns of southern Louisiana have a carrier frequency similar to Ashkenazi Jews, but they carry a different mutation. Most HEXA mutations are rare, and do not occur in genetically isolated populations

A healthy baby is able to develop vision, movement, hearing, and other vital functions, in part, because enzymes clear out fatty protein and other unwanted material that can interfere with growth. Genomic, biochemical, morphological, electrophysiological, and imaging data are accumulating at rates exceeding the capacity of manual analysis. Symptoms of classical Tay-Sachs disease first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out and, eventually, becomes blind, paralyzed and unaware of its surroundings.

By the age of two years most Tay-Sachs babies experience recurrent seizures, and diminished mental status. The infant gradually regresses, losing skills one by one. Because the disease can be detected before a child is born, couples in those ethnic groups who are thinking of having children may want to get a blood test to find out whether their child would be likely to have the disease.

Causes of Tay Sachs Disease

The comman causes of Tay Sachs Disease include the following:

  • Tay-Sachs disease is caused by a deficiency of hexosaminidase, an enzyme that is important in the metabolism of gangliosides (a type of chemical substance found in nerve tissue).
  • The cause (etiology) of epilepsy may be not clearly known (idiopathic) or related to a particular disease state.
  • Symptoms generally begin to appear when the child is 3 – 6 months old.
  • Tay-Sachs has been classified into infantile, juvenile, and adult forms, depending on the type of symptoms and when they first appear.
  • The disease tends to progress rapidly, and the child usually dies by the age of 4 or 5 years.

Symptomas of Tay Sachs Disease

Some sign and symptoms related toTay Sachs Disease are as follows:

  • Increased startle reaction
  • Dementia
  • Irritability
  • deafness,
  • loss of motor skills (the ability to control movements),,
  • seizures (fits),
  • Increased startle reaction
  • Decreased eye contact, blindness
  • Listlessness
  • Delayed mental and social skills
  • Slow growth

Treatment of Tay Sachs Disease

Here is list of the methods for treating Tay Sachs Disease:

  • There is no treatment for Tay-Sachs disease itself, only ways to make the patient more comfortable.
  • Your chances of having future children with the disease.
  • As a result, treatment is focused on trying to make the child with the condition as comfortable as possible.
  • Your concerns and the guidance you need to deal with your child.
  • The treatment would involve providing babies with Tay-Sachs disease new genes.
  • Treatment is aimed at controlling symptoms, such as medication for seizures.
  • Family counseling to help each member deal with the effects of the disease.