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Disease or Condition — Brain and Nerve Disorders:
AB variant Tay-Sachs disease

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Tay-Sachs disease is a rare, inherited disorder caused by a genetic mutation in the HEXA gene. It is characterized by the progressive destruction of nerve cells in the brain and spinal cord, leading to severe physical and mental disability. The most common variant of Tay-Sachs disease is the infantile form, which usually appears in the first few months of life. Symptoms include an inability to move, seizures, an enlarged head, and an inability to swallow. Other variants of Tay-Sachs disease include juvenile, adult, and late-onset forms, which may have different symptoms and progress at different rates. Treatment for Tay-Sachs disease is limited, and there is no cure. However, early diagnosis and supportive care can help improve quality of life.

  • AB variant GM2-gangliosidosis
  • GM2-activator deficiency
  • GM2A activator deficiency
  • hexosaminidase activator deficiency
  • Type AB GM2-gangliosidosis

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