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.
Hello, Please confirm with the genetic testing of Hex gene. Hexaminidase deficiency cause day Sachs disease. It is a neurodegenerative disease that causes loss of vision, seizures. Supportive treatment only. Main thing is to avoid in the next pregnancy. Please parents should undergo genetic counseling. Hope I have answered your query. Let me know if I can assist you further. Take care Chat Doctor.