Sandhoff disease

Sandhoff disease is a rare, inherited disease that progressively destroys nerve cells in the brain and spinal cord. It occurs when fatty materials called lipids accumulate in brain cells (and in other parts of the body), forcing them to malfunction and die.

Sandhoff disease is caused by a deficiency of the enzyme beta-hexosaminidase and is a severe form of the neurological disorder called Tay-Sachs disease. A child must inherit the defective gene from each parent in order to have Sandhoff disease. Individuals who carry only one copy of the mutated gene typically do not show signs and symptoms of the disorder. Onset usually occurs at 6 months of age and death usually occurs by age 3, most often from respiratory infections. Neurological symptoms may include:

• Progressive nervous system deterioration
• Problems initiating and controlling muscles and movement
• Early blindness
• Seizures
• Spasticity (non-voluntary and awkward movement)
• Myoclonus (shock-like contractions of a muscle)
• Macrocephaly (an abnormally enlarged head)

Other symptoms may include:

• Cherry-red spots in the eyes
• Frequent respiratory infections
• Doll-like facial appearance
• Enlarged liver and spleen
• Exaggerated fear/reaction to sound

There is no specific treatment for Sandhoff disease. Treatment is aimed at easing some of the symptoms and includes proper nutrition and hydration and keeping the airway open. Antiseizure medicines may be prescribed.

How can I or my loved one help improve care for people with Sandhoff disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about Sandhoff disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Sandhoff disease at Clinicaltrials.gov.

Where can I find more information about Sandhoff disease?

Information may be available from the following resources:

Genetics and Rare Diseases (GARD) Information Center

Hide and Seek Foundation for Lysosomal Storage Disease Research
Phone: 877-621-1122

MedlinePlus

National Tay-Sachs and Allied Diseases Association
Phone: 800-906-8723

Content source: https://www.ninds.nih.gov/health-information/disorders/sandhoff-disease Accessed June 29, 2023.

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