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Sandhoff Disease

Forms and Symptoms of Sandhoff Disease

Infants with Sandhoff disease typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken.
 
Sandhoff diseases symptoms may include:
 
  • Motor weakness
  • Startle reaction to sound
  • Early blindness
  • Progressive mental and motor deterioration
  • Macrocephaly (an abnormally enlarged head)
  • Cherry-red spots in the eyes
  • Seizures
  • Myoclonus (shock-like contractions of a muscle).
     
Other symptoms of Sandhoff disease may include:
 
  • Frequent respiratory infections
  • Doll-like facial appearance
  • An enlarged liver and spleen.
     

Making a Diagnosis

In order to make a Sandhoff disease diagnosis, the doctor will ask a number of questions about symptoms and family history, perform a physical exam, and recommend certain tests, including a blood test.
 
Patients and carriers of Sandhoff disease can be identified by a simple blood test that measures HEXB activity.
 

Treating Sandhoff Disease

There is no cure or way of slowing down the progression of Sandhoff disease. Therefore, treatment focuses on controlling the symptoms of Sandhoff disease. Based on the symptoms, some of these treatments for Sandhoff disease may include:
 
  • Medications
  • Techniques to keep the airway open.
     
Treatment also focuses on lifestyle and care issues, including:
 
  • Feeding
  • Proper nutrition and hydration.
     
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