What is Sandhoff disease?

Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord.  It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease, the incidence of which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may include progressive nervous system deterioration, problems initiating and controlling muscles and movement, increased startle reaction to sound, early blindness, seizures, spasticity (non-voluntary and awkward movement), and myoclonus (shock-like contractions of a muscle.  Other symptoms may include macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen. Each parent must carry the defective gene and pass it on to the child.  Individuals who carry only one copy of the mutated gene typically do not show signs and symptoms of the disorder.

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.  

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 mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.  The NINDS is a part of the National Institutes of Health, the largest supporter of biomedical research in the world.  The NINDS, along with other NIH Institutes, supports the Lysosomal Disease Network, a network of centers that addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases. Research funded by the NINDS focuses on better understanding of how neurological deficits rise in lipid storage diseases and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS funded research on the gangliosidoses includes variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression, and expanding the use of virus-delivered gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans. 

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