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Genetic and Rare Diseases Information Center (GARD)

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Sandhoff disease

Other Names for this Disease
  • Beta-hexosaminidase-beta-subunit deficiency
  • GM2 gangliosidosis, type 2
  • Hexosaminidase A and B deficiency Disease
  • Sandhoff-Jatzkewitz-Pilz disease
  • Total hexosaminidase deficiency
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What are the signs and symptoms of Sandhoff disease?

Infants with the classic form of Sandhoff disease typically appear normal until the age of 3 to 6 months when their development slows and muscles used for movement weaken. Affected infants typically lose motor skills such as turning over, sitting, and crawling. They may also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Sandhoff disease may experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified through an eye examination, is characteristic of this disorder. Some affected children also have an enlarged liver and spleen, frequent respiratory infections, or bone abnormalities.[1][2] Children with the severe infantile form of Sandhoff disease usually live only into early childhood.[1]

Forms of Sandhoff disease where the symptoms develop after infancy are very rare. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Sandhoff disease.[1]

Last updated: 2/2/2011

  1. Sandhoff disease. Genetics Home Reference (GHR). 2008; Accessed 10/19/2011.
  2. NINDS Sandhoff Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2011; Accessed 10/19/2011.