Metabolism

Tay-Sachs Disease

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Tay-Sachs Disease, Amaurotic Familial Idiocy

  • See Also
  1. Lysosomal Storage Disease
  2. Inborn Errors of Metabolism
  • Epidemiology
  1. Hereditary recessive trait
  2. Jews of eastern European origin
  • Pathophysiology
  1. Inborn error of metabolism
  2. Abnormal metabolism of Neuronal lipids
  3. Results in cerebral atrophy
  • Symptoms
  1. Insidious onset at about 6 months of age
  2. Healthy infants develop progressive Developmental Delay
  • Signs
  1. Initial Stages
    1. Decreased motor activity
    2. Flaccidity
    3. Apathy
    4. Inattentiveness
  2. Later Stages
    1. Spasticity
    2. Clonus
    3. Babinski with upgoing toes
    4. Convulsions
    5. Increasing Dementia
  3. Final Stages
    1. Blindness
    2. Idiocy
    3. Retinal cherry red spot of Macular Degeneration
  • Course
  1. Death occurs in first 3-4 years