Symptoms

First signs - Early symptoms of Juvenile Sandhoff include lack of coordination or clumsiness and muscle weakness such as struggling with stairs. A child may also exhibit slurred speech, swallowing difficulties and muscle cramps.

Gradual Loss of skills - Over time children with Juvenile Sandhoff slowly decline, losing their ability to walk, eat on their own and communicate. Children are prone to respiratory infections and often experience recurrent bouts of pneumonia.  Many have seizures.

Range of Severity - Juvenile Sandhoff has a broad range of severity. In most cases, the earlier the first signs are observed, the more quickly the disease will progress. For example, a child with first symptoms at age 2 will decline faster than a child with first symptoms at age 5.

Diagnosis

Children affected by the Juvenile form of Sandhoff disease do not exhibit the tell-tale cherry-red spot in the eye.  This can make the road to diagnosis long and challenging. Unfortunately many healthcare providers are not aware of the rare juvenile forms of these diseases and dismiss the initial diagnosis due to the age of the child. 

Management

There is no treatment or cure for Sandhoff disease but there are ways to manage symptoms. These range from life extending interventions like a feeding tube to comfort measures like massage to promote relaxation.

Progressive loss of ambulatory skills followed by respiratory health and seizure management are the main symptom management issues in Juvenile Sandhoff. 

Recommendations for managing the symptoms appear in Find Support.

Newly diagnosed families should read Finding Your Philosophy of Care, available through NTSAD. It will help parents develop a care plan and care goals to aid in major care choices.