D2I2.
genetic

Tay–Sachs disease

Tay–Sachs disease is an inherited fatal storage disease that results in the destruction of nerve cells in the brain and spinal cord. The most common form is infantile Tay–Sachs disease, which becomes apparent around the age of three to six months, with the infant losing the ability to turn over, sit, or crawl. This is then followed by , hearing loss, and inability to move, with death usually occurring by the age of three to five. Less commonly, the disease may occur later in childhood, adolescence, or adulthood. These forms tend to be less severe, but the juvenile form typically results in death by the age of 15.

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Symptoms — what it feels like

  • ·Initially: Decreased ability to turn over, sit, or crawl
  • ·Later: , hearing loss, inability to move

Causes — why it happens

  • · ( )

How it's found

  • ·Testing blood hexosaminidase A levels, testing

Treatment

  • ·Supportive care, psychosocial support

Outlook

  • ·Death often occurs in early childhood (3 months to 6 months)
Plain-language summary adapted from Wikipedia. Not medical advice.