Sandhoff disease


What is Sandhoff disease?

Sandhoff disease is a genetic condition that affects brain and spinal cord. The condition usually starts in babies around 3 to 6 months of age. Babies with Sandhoff disease usually start to loose skills like rolling over and sitting up and eventually become unable to see, hear, or move on their own. Very rarely older people can have symptoms of Sandhoff disease. These symptoms are problems with movement and speech. Usually, a medical geneticist or other neonatal specialist will diagnose GRACILE syndrome in the neonatal period. To find a medical geneticist, patients can search the American College of Medical Geneticists "Find a Member" site.

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Are there other names for Sandhoff disease?

How common is Sandhoff disease?

Who is Sandhoff disease named after?

Are there other names for Sandhoff disease?

There are several other names for Sandhoff disease. These include:

  • Sandhoff-Jatzkewitz-Pilz disease
  • Hexosaminidase A and B Deficiency Disease
  • GM2 Gangliosidosis, Type II
  • Beta-hexosaminidase-beta-subunit deficiency
  • Total hexosaminidase deficiency
  • Hexosaminidases A and B deficiency

Patients can ask their physician about the name they are using to describe Sandhoff syndrome.

How common is Sandhoff disease?

Sandhoff disease is a very rare condition. It is seen in less than 1/100,000 babies. The disease might be more common in people from Saskatchewan, Canada, Lebanon, or certain areas of Argentina.

  • Genetics Home Reference "Sandhoff Disease"
  • Fitterer, et al. Molecular Genetics and Metabolism 111 (2014) 382-389 PMID 24461908
Who is Sandhoff disease named after?

Sandhoff disease was first described in the late 1960s by a doctor with the last name Sandhoff. The disease now has his name because he was the first person to describe the disease. To find out more about the history of Sandhoff disease, people can speak with a genetic counselor. A genetic counselor can be found through the "Find a Genetic Counselor" link on the National Society of Genetic Counselors website.

  • OMIM #268800 Sandhoff Disease
  • Sandhoff, et al Life Sci. 1968 Mar 15;7(6):283-8. PMID 5651108

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