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Diseases

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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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

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.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of metabolism/homeostasis 90%
Abnormality of movement 90%
Abnormality of the macula 90%
Cognitive impairment 90%
Hearing impairment 90%
Incoordination 90%
Kyphosis 90%
Macrocephaly 90%
Seizures 90%
Visual impairment 90%
Full cheeks 50%
Hepatomegaly 50%
Muscle weakness 50%
Recurrent respiratory infections 50%
Splenomegaly 50%
Congestive heart failure 7.5%
Skeletal dysplasia 7.5%
Abnormality of glycosphingolipid metabolism -
Amyotrophy -
Ataxia -
Blindness -
Cardiomegaly -
Cherry red spot of the macula -
Chronic diarrhea -
Coarse facial features -
Dysarthria -
Episodic abdominal pain -
Fasciculations -
Hepatosplenomegaly -
Hyperhidrosis -
Hyperreflexia -
Hypohidrosis -
Impaired thermal sensitivity -
Impotence -
Macroglossia -
Orthostatic hypotension -
Progressive psychomotor deterioration -
Urinary incontinence -

Last updated: 11/3/2014

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.


References
  1. Sandhoff disease. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/sandhoff-disease. Accessed 10/19/2011.
  2. 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.


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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.