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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What causes muscle weakness, loss of dexterity and optic atrophy?

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.
Thu, 10 Oct 2019
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Pediatrician 's  Response
Hello,

Please confirm with the genetic testing of Hexa gene. hexaminidase deficiency cause tay 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

Regards,
Dr Prasanna Lakshmi, Pediatrician
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