• 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.

Clinical Features:-

• 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.

References:-

1.Shafers’ 8th edition

2.Google images

3. For better understanding: https://youtu.be/2z3nSnBe8Vg