Tay-Sachs Disease
Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord.
Symptoms
- Muscle weakness
- Loss of motor skills
- Exaggerated startle response
- Vision and hearing loss
Causes & Risk Factors
- Genetic mutation in HEXA gene
- Ashkenazi Jewish ancestry
- Family history of Tay-Sachs
Diagnosis
- Enzyme assay
- Genetic testing
- Prenatal screening
- Neurological evaluation
Effective Treatment Options
- Supportive care
- Physical therapy
- Respiratory support
- Feeding assistance
Frequently Asked Questions
Is there any treatment for Tay-Sachs?
There is no cure, but supportive care helps manage symptoms and improve comfort.
How is Tay-Sachs diagnosed?
Through enzyme assays and genetic testing.
