tay-sachs disease

When there is a suspicion that a person might have Tay–Sachs disease, regardless of the age of onset, the initial testing starts with an enzyme assay to determine the activity of hexosaminidase in leukocytes, fibroblasts, or serum. In individuals with Tay-Sachs disease, hexosaminidase enzyme activity is decreased.

After decreased hexosaminidase enzyme activity in an individual is confirmed, there’s a possibility to pursue confirmation by molecular analysis as well.

Patients with infantile onset of the disease have a “cherry red” spot in the retina, easily detectable by a doctor using an ophthalmoscope. This spot is due to gangliosides in the retinal ganglion cells. This red spot is the only normal part of the retina, and it shows up because of the contrast to the rest of the retina.

Tay-Sachs disease cannot be cured, but there are a few ways to prevent or reduce it. Prenatal diagnosis is a way to determine if partners are both identified as carriers. If they are, prenatal genetic testing can determine if the fetus has inherited the defective gene from the parents.

It is possible to detect the defective gene through the preimplantation genetic diagnosis. Mother’s eggs are tested in vitro for the Tay-Sachs disorder. This allows only the healthy embryos to be transferred into the womb.

  1. October 12, 2018

    Yes, that’s a great post! There is no cure for Tay-Sachs. Treatment typically consists of keeping the child comfortable. This is called “palliative care.” Palliative care may include medication for pain, anti-epileptics to control seizures, physical therapy, feeding tubes, and respiratory care to reduce mucus buildup in the lungs. Thanks and keep posting things like this.

  2. October 14, 2018

    Tay-Sachs disease is a rare genetic disorder that is typically constrained to certain ethnic populations. It is characterized by the destruction of nerve cells in the central nervous system and can lead to blindness, deafness, and the loss of mental and physical functions.Beyond the motor and cognitive symptoms of the disease, one of the tell-tale signs in children is an eye abnormality. Also, there is no cure for this disease.

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