TAY-SACHS DISEASE - Overview, Facts, Symptoms, Diagnosis


Tay-Sachs disease is an unusual ailment that is handed on from one generation to the next. It is due to a lack of an enzyme that aids in the digestion of fatty foods. Furthermore, gangliosides, which are fatty molecules, accumulate to dangerous levels in a child’s brain and disrupt nerve cell activity.


Mostly, an infant begins to develop symptoms around the age of six months. Moreover, Tay-Sachs disease can cause the following signs and symptoms:

  • Exaggerated reactions when a newborn hears loud and excessive noises
  • Hearing and vision loss
  • Muscle weakness
  • Motor skills loss, such as sitting up, crawling, or rolling over
  • Eyes with cherry-red spots
  • Problems with mobility


Before doing a diagnostic blood test to check if your kid has Tay-Sachs disease, your doctor will interview you about your child’s symptoms and any hereditary family issues.

During the diagnosis, the hexosaminidase enzyme level in the child’s blood is measured by a blood test. In Tay-Sachs disease, the levels are low or non-existent.

Furthermore, you must see an ophthalmologist and a pediatric neurologist for examinations of the eyes and nervous systems, respectively. Your doctor may notice a cherry-red area in the back of your child’s eyes if he or she has Stargardt’s illness.


Although the Tay-Sachs illness has no cure or treatment, there are several treatments that can help with symptom management. Treatments that help include:

  • Medication. A lot of prescription drugs, including anti-seizure drugs, are available to help your child’s symptoms.
  • Respiratory care. Children with Tay-Sachs disease are particularly vulnerable to infection in the lungs, which can cause breathing difficulties and lead to the accumulation of lung mucus.
  • Feeding tubes. By breathing food or fluids into the lungs during eating, your child may have difficulty swallowing.Your doctor may prescribe an assisted feeding device, such as a gastrostomy tube, which is put through your kid’s nose and goes to your stomach for the child, to avoid these problems.
  • Physical Therapy. As the illness worsens, our child may benefit from physical therapy to keep the joints open and maintain as much range of motion as is feasible. Moreover, it can help prevent or delay joint stiffness and the loss of function and pain that can occur as a result of shortened muscles.

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