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Tay-Sachs DiseaseAka: Amaurotic Familial Idiocy

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  1. See Also
    1. Lysosomal Storage Disease
    2. Inborn Errors of Metabolism
  2. Epidemiology
    1. Hereditary recessive trait
    2. Jews of eastern European origin
  3. Pathophysiology
    1. Inborn error of metabolism
    2. Abnormal metabolism of neuronal lipids
    3. Results in cerebral atrophy
  4. Symptoms
    1. Insidious onset at about 6 months of age
    2. Healthy infants develop progressive developmental delay
  5. 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
  6. Course
    1. Death occurs in first 3-4 years

Amaurotic Familial Idiocy (C0282220)

Definition (MSH)An outdated term for Tay-Sachs disease.
ConceptsDisease or Syndrome (T047)
ICD9330.1
EnglishAmaurotic Familial Idiocy, Familial Amaurotic Idiocy, Infantile amaurotic familial disease, INFANTILE AMAUROTIC FAMILIAL IDIOCY
Spanishenfermedad familiar amaurótica, enfermedad familiar amaurótica infantil, enfermedad familiar amaurotica, enfermedad familiar amaurotica infantil, idiotez familiar amaurótica, idiotez familiar amaurotica
CreditsDerived from the NIH UMLS (Unified Medical Language System)



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