- Characterized by mutation in or deficiency of enzyme hexosaminidase.
- Without this, gangliosides, particularly ganglioside GM2, build up in cells, especially nerve cells in the brain.
- Classified into infantile, juvenile, and adult forms, depending on the symptoms and when they first appear.
- Most people with Tay-Sachs have the infantile form.
- Infants with this disorder typically appear normal until the age of 3 to 6 months
- Affected infants lose motor skills such as turning over, sitting, and crawling.
- Develop an exaggerated startle reaction to loud noises.
- As the disease progresses, children experience seizures, vision and hearing loss, intellectual disability, and paralysis.
- An eye abnormality called a cherry-red spot, is characteristic of this disorder.
- Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood.
1.Shafers’ 8th edition
3. For better understanding: https://youtu.be/2z3nSnBe8Vg