Endocrinology Book

http://www.fpnotebook.com/

Tay-Sachs DiseaseAka: Amaurotic Familial Idiocy

Advertisement

  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Definition (MSH)An outdated term for Tay-Sachs disease.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
MSHD013661
EnglishAmaurotic Familial Idiocy, Familial Amaurotic Idiocy, Infantile amaurotic familial disease, INFANTILE AMAUROTIC FAMILIAL IDIOCY
Spanishenfermedad familiar amaurotica, enfermedad familiar amaurotica infantil, idiotez familiar amaurotica
SourcesCOSTAR, CSP, DXP, MSH, MTH, MTHICD9, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



Navigation Tree