Hi, I have a 1 year old male patient who experience vision loss, muscle weakness with hypotonia, loss of dexterity, unable to crawl or turn, balance loss and difficulty to stand up or sit down, he had some spasm and seizure. He also have a bilateral macular red spot, optic atrophy and total absence of hexosaminidase A protein. His parents were carrying a genetic disease and also have family history of death at a similar age from unknown causes.