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