Endocrinology Book

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Tay-Sachs Disease

Aka: Tay-Sachs Disease, Amaurotic Familial Idiocy
  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Definition (MSH) An outdated term for Tay-Sachs disease.
Concepts Disease or Syndrome (T047)
MSH D013661
SnomedCT 111385000, 192786008
English INFANTILE AMAUROTIC FAMILIAL IDIOCY, Amaurotic Idiocy, Familial, Familial Amaurotic Idiocy, Idiocies, Familial Amaurotic, amaurotic familial idiocy, familial amaurotic idiocy (diagnosis), familial amaurotic idiocy, Amaurotic familial idiocy, Infantile amaurotic familial disease, Amaurotic Familial Idiocy, Familial Idiocy (Amaurotic)
Italian Idiozia familiare amaurotica
Japanese 家族性黒内障白痴, ｶｿﾞｸｾｲｺｸﾅｲｼｮｳﾊｸﾁ
Spanish Amaurotic familial idiocy, enfermedad familiar amaurótica infantil, enfermedad familiar amaurótica, idiotez familiar amaurótica, Idiocia familiar amaurótica
French Idiotie amaurotique familiale, Idiotie familiale amaurotique
German Amaurotische familiäre Idiotie, amaurotische familiaere Idiotie
Czech Familiární amaurotická idiocie
Hungarian Amaurotikus familiaris idiotizmus
Portuguese Idiotia anaurótica familiar juvenil
Dutch amaurotische familiale idiotie
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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