Sandhoff Disease

Sandhoff disease is rare. Sandhoff disease is genetic. It is caused by a lack of the enzyme hexosaminidase. This results in the collection of certain fats (lipids) in the brain and other organs of the body. It results in the progressive deterioration of the central nervous system. Sandhoff disease is not limited to any ethnic group. The disorder usually occurs at 6 months of age.


  • Motor weakness.

  • Startled reaction to sound.

  • Early blindness.

  • Progressive mental deterioration.

  • Progressive motor deterioration.

  • Frequent respiratory infections.

  • An abnormally enlarged head (macrocephaly).

  • Doll-like facial appearance.

  • Cherry-red spots in the back of the eyes.

  • Seizures.

  • Shock-like contractions of a muscle (myoclonus).


There is no specific treatment for Sandhoff disease. Treatment is symptomatic and supportive.