Sandhoff Disease: General Information

Author: Ian C. Langtree - View Credentials
Published: 5 Apr 2009 - Updated: 1 Feb 2023

Table of Contents:
Synopsis - Overview - Related Content

Synopsis

Sandhoff disease is a rare genetic lipid storage disorder resulting in the progressive deterioration of the central nervous system.

Overview

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.

Author Credentials: Ian C. Langtree is a writer, editor, and the founder and Editor-in-Chief of Disabled World, which he established in 2004 as one of the longest-running independent resources for disability news and information. Over more than two decades, he has written and edited thousands of articles on disability rights, health, accessibility, and assistive technology. Drawing on a global perspective shaped by extensive travel and lived experience, Ian is a committed advocate of the Social Model of Disability, the framework developed by disabled activists in the 1970s that focuses on removing societal barriers rather than on individual impairments. His writing is grounded in that framework and in a lasting commitment to disability rights, accessibility, and social inclusion. To learn more about Ian's background, expertise, and accomplishments, visit his full biography.