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.
The Human Phenotype Ontology provides the following list of signs and symptoms for Sandhoff disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- 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.