In Tay-Sachs disease, while aggressive medical treatments can prolong patients' lifespan, significant improvement in neurological functions cannot be achieved. The underlying cause of the disease is the deficiency of the Hexosaminidase-A (HexA) enzyme in the brain. While ensuring the secretion of this enzyme in the brain is considered the most effective treatment approach, the passage of many therapeutic molecules into the brain is limited due to the blood-brain barrier.

Intensive research is being conducted on gene therapies to overcome this challenge. These studies aim to deliver DNA fragments that will enable brain cells to produce the missing HexA enzyme, using harmless viral vectors, thereby bypassing the blood-brain barrier and ensuring enzyme secretion. These approaches have been tested in some infants, and positive neurological developments have been observed. However, a definitive cure is not yet available. Current treatments primarily consist of supportive approaches aimed at managing symptoms and signs:

* Pain management: Provided with painkillers.
* Seizure control: Managed with antiepileptic medications.
* Physical therapy: Supports mobility and overall quality of life.
* Nutritional support: Ensures adequate nutrient intake.
* Respiratory support and physiotherapy: Helps clear mucus accumulated in the lungs.
* Psychological support: Is of great importance for the patient and their family.