Sandhoff Disease: General Information
Ian C. Langtree - Writer/Editor for Disabled World (DW)
Published: 2009/04/05 - Updated: 2023/02/01
Topic: Pediatric Disabilities - Publications List
Page Content: Synopsis - Introduction - Main
Synopsis: Sandhoff disease is a rare genetic lipid storage disorder resulting in the progressive deterioration of the central nervous system. Sandhoff disease is caused by a mutation (defect) in the HEXB gene.
Introduction
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.
Focus
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.
Author Credentials: Ian is an Australian-born writer, editor, and advocate who currently resides in Montreal, Canada. He is the founder and Editor-in-Chief of Disabled World, a leading resource for news and information on disability issues. With a global perspective shaped by years of travel and lived experience, Ian is a committed proponent of the Social Model of Disability-a transformative framework developed by disabled activists in the 1970s that emphasizes dismantling societal barriers rather than focusing solely on individual impairments. His work reflects a deep commitment to disability rights, accessibility, and social inclusion. To learn more about Ian's background, expertise, and accomplishments, visit his full biography.