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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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.
- Sandhoff disease. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/sandhoff-disease. Accessed 10/19/2011.
- NINDS Sandhoff Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2011; http://www.ninds.nih.gov/disorders/sandhoff/sandhoff.htm. Accessed 10/19/2011.