NINDS Sandhoff Disease Information Page

Table of Contents (click to jump to sections)

What is Sandhoff Disease?
Is there any treatment?
What is the prognosis?
What research is being done?
Clinical Trials
Organizations

What is Sandhoff Disease?

Sandhoff disease is a rare, genetic, lipid storage disorder resulting in the progressive deterioration of the central nervous system. It is caused by 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. Sandhoff disease is a severe form of Tay-Sachs disease--which is prevalent primarily in people of Eastern European and Ashkenazi Jewish descent--but it is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological 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, and myoclonus (shock-like contractions of a muscle). Other symptoms may include frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen.

Is there any treatment?

There is no specific treatment for Sandhoff disease. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures. In other ongoing studies, a small number of children have received an experimental treatment using transplants of stem cells 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.

What is the prognosis?

The prognosis for individuals with Sandhoff disease is poor. Death usually occurs by age 3 and is generally caused by respiratory infections.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH), conducts research about lipid storage diseases in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country.

NIH Patient Recruitment for Sandhoff Disease Clinical Trials

Organizations

Column1	Column2
National Tay-Sachs and Allied Diseases Association 2001 Beacon Street Suite 204 Boston, MA 02135 info@ntsad.org http://www.ntsad.org Tel: 800-90-NTSAD (906-8723) Fax: 617-277-0134	National Organization for Rare Disorders (NORD) 55 Kenosia Avenue Danbury, CT 06810 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated October 6, 2011