Tay – Sachs Disease

Tay-Sachs disease
  • 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.
Tay sachs DISEASE

References:-

1.Shafers’ 8th edition

2.Google images

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

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s