Sandhoff Disease: General Information

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Main Digest

Sandhoff Disease Alternate Names: Gangliosidosis GM2 type II, Gangliosidosis Beta Hexosaminidase B Deficiency, Hexosaminidases A and B Deficiency.

The U.S. Social Security Administration (SSA) has included Sandhoff Disease as a Compassionate Allowance to expedite a disability claim.

Sandhoff disease is caused by a mutation (defect) in the HEXB gene. This defect causes a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body.

Infantile Form

Onset of the disorder usually occurs at six months of age. Infants with Sandhoff disease typically appear normal until 3 to 6 months, when development slows and muscles used for movement weaken. Sandhoff disease 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)
• Frequent respiratory infections
• Doll-like facial appearance
• An enlarged liver and spleen

Onset by six months of age and positive gene testing confirm the diagnosis of this disease. Individuals and carriers of Sandhoff disease can be identified by a simple blood enzyme analysis test that measures HEXB activity.

Treatment

There is no specific treatment for Sandhoff disease.

Supportive treatment includes proper nutrition, hydration, and keeping the airway open. Anticonvulsants may initially control seizures. In other ongoing studies, many children have received experimental treatment using stem cell transplants from umbilical cord blood. Although these limited trials have not yet produced a treatment or cure, scientists continue to study these and other investigational approaches.

Prognosis

The prognosis for individuals with Sandhoff disease is poor. In the Infantile form, affected children usually do not survive past age 3, and respiratory infections generally cause death.

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