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Tay-Sachs DiseaseAka: 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

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This page was written by Scott Moses, MD, and was last revised 1/26/2008. Please send comments and questions to the editor. Contact information may be found on the page About the Family Practice Notebook. These pages are best viewed with Microsoft Internet Explorer 5.0.