As of 2017, the exact prevalence of Sandhoff disease in the general population is unknown, although it is estimated to be rare.
As of 2017, Sandhoff disease appears to be more common in certain populations, including the Creole population of northern Argentina, the Metis Indians of Saskatchewan, Canada, and in people from Lebanon.
As of 2017, the estimated carrier frequency for Sandhoff disease in the general population ranges from approximately 1:310 to 1:276. However, the carrier frequency in specific populations is expected to be higher. The carrier frequency of Sandhoff disease in the Saskatchewan population is estimated at 1:15.
Frequently Asked Questions About Sandhoff disease
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.
Who can treat Sandhoff disease?
Patients with Sandhoff disease will probably need to meet with many different types of specialists to help manage their symptoms. These providers may include a medical geneticist, a genetic counselor, a neurologist, and a respiratory therapist. People can talk with their doctor to find out what type of specialist is needed to find the right treatment.
Where do I find other people with Sandhoff disease?
Families may find it helpful to reach out to other families that have experience with Sandhoff disease. People can contact one of the following support organizations to find other families:
What testing is available for Sandhoff disease?
Testing for Sandhoff disease can be done two ways:
What is the difference between Sandhoff disease and Tay-Sachs?
Tay Sachs disease and Sandhoff disease are nearly identical conditions. The symptoms of the two conditions are very similar. However, Tay Sachs disease is caused by mutations in the HEXA gene while Sandhoff disease is caused by mutations in the HEXB gene. The other main difference between these conditions is that Tay Sachs is most commonly seen in people of Ashkenazi Jewish ancestry, where 1 in 30 individuals is a carrier. However, Sandhoff disease is not seen in any specific ethnic group. To learn more about the differences between Tay Sachs disease and Sandhoff disease, people can speak to a genetic counselor. A genetic counselor can be found through the "Find a Genetic Counselor" link on the National Society of Genetic Counselors website.
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.
What is life with Sandhoff disease like?
Many infants with Sandhoff disease will reach early milestones, such as being able to control head and neck movement, reaching for a toy and transferring an object from one hand to the other. However, many infants will start to loose these abilities as the disease progresses over time. Most young children with Sandhoff disease are not able to feed themselves or move themselves. To find out more about living with Sandhoff disease, parents can talk with a medical geneticist or their pediatrician. To find a medical geneticist, patients can search the American College of Medical Geneticists "Find a Member" site.
What gene change causes Sandhoff disease?
Sandhoff disease is caused by a change or "mutation" in the HEXB gene. Mutations in this gene can cause a build of certain poisonous chemicals in the brain and spinal cord. This build up is what causes the symptoms of Sandhoff disease. Specially trained healthcare providers called genetic counselors can explain more about specific genetic changes in the HEXB gene. A genetic counselor can be found through the "Find a Genetic Counselor" link on the National Society of Genetic Counselors website.
What family members should be tested for Sandhoff disease?
People who have one change, or mutation, in the HEXB gene are called "carriers" of Sandhoff disease. This means they do not have the condition, but they can pass it on. Blood relatives of a person with Sandhoff disease all have a chance of being a carrier for the condition. Siblings (who do not have symptoms of Sandhoff disease) have a 2 in 3, or about 66%, chance of being a carrier for Sandhoff disease. Both parents of a person with Sandhoff disease must be carriers. More distant relatives of the individual have different chances of being carriers: aunts/uncles have a 50% chance, each grandparent has a 25% chance, and cousins have a 25% chance. Families can talk to a genetic counselor to find out who in the family should be tested for Sandhoff dsiease. A genetic counselor can be found through the "Find a Genetic Counselor" link on the National Society of Genetic Counselors website.
What are the most common symptoms of Sandhoff disease?
The main symptoms of Sandhoff disease are muscle weakness that starts around 3 to 6 months old. Over time, the muscle weakness gets worse and eventually the babies might not be able to move by themselves. These babies might also have a very strong startle response. A very common symptom of Sandhoff disease is a "cherry-red spot" that can be found when an eye exam is done. Other common symptoms of Sandhoff disease are seizures, loss of sight and heart, intellectual disability, and paralysis. People can learn more about the common symptoms of Sandhoff disease by visiting the Genetics Home Reference website on Sandhoff disease or by talking to a genetic counselor. A genetic counselor can be found through the "Find a Genetic Counselor" link on the National Society of Genetic Counselors website.
What are the first steps after an initial diagnosis of Sandhoff disease?
The first steps after being diagnosed with Sandhoff disease are to talk with a doctor about treatment options. Treatment options are usually meant to help manage the symptoms of Sandhoff disease. Parents can talk to their child’s doctor about any medications, such as medicine to help stop seizures, or other treatments that are available.
Is there newborn testing for Sandhoff disease?
Usually newborns are not tested for Sandhoff disease. Most newborns with Sandhoff disease appear normal at birth and do not have any symptoms. People can learn more about testing for Sandhoff disease by talking to a genetic counselor. A genetic counselor can be found through the "Find a Genetic Counselor" link on the National Society of Genetic Counselors website.
Is there a treatment for Sandhoff disease?
There are treatments available for Sandhoff disease, however none of these treatments can cure the condition. The goal of treatment is to help manage symptoms. Some of the treatment options for infants with Sandhoff disease include:
Is research being done on Sandhoff disease?
As of October 2016, there are at least seven clinical trials that are actively recruiting patients with Sandhoff disease. People can go to clinicaltrials.gov and type "Sandhoff disease" in the search bar to find these trials.
How long do people with Sandhoff disease live?
Most children with Sandhoff disease do not live past the age of three to four. To find out more about living with Sandhoff disease, parents can talk with a medical geneticist or their pediatrician. To find a medical geneticist, patients can search the American College of Medical Geneticists "Find a Member" site.
How is Sandhoff disease inherited?
We each typically have 2 copies of the HEXB gene, one from our mother and one from our father. We only need 1 copy of the HEXB gene to work in order for our cells to work properly. In order to have Sandhoff disease, both copies of the HEXB gene need to have changes or mutations that make the gene not work properly. This is called autosomal recessive inheritance. The changes in the two copies of the HEXB gene can be the same change or different. As long as both changes make the gene work less or not at all, the person will have Sandhoff disease. Someone who only has 1 change is known as a carrier. Therefore, the parents of a person with Sandhoff disease are both carriers of a change in the HEXB gene. Parents can talk to a genetic counselor to learn more about how Sandhoff disease is inherited. A genetic counselor can be found through the "Find a Genetic Counselor" link on the National Society of Genetic Counselors website.
How does the HEXB gene change cause Sandhoff disease?
Changes in the HEXB gene cause a person’s body to not make enough of two certain chemicals or "enzymes" called beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are needed to break down a type of fat called GM2 ganglioside. When this fat is not broken down right, it will build up in the brain and nervous system. This build up can be poisonous for cells in the brain. This is what causes the symptoms of Sandhoff disease. People can learn more about the causes of Sandhoff disease by talking 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.
How do I find clinical research on Sandhoff disease?
As of October 2016, there are at least seven clinical trials that are actively recruiting patients with Sandhoff disease. People can go to clinicaltrials.gov and type "Sandhoff disease" in the search bar to find these trials.
How do I find a center of excellence in Sanhoff disease?
The treatment for Sandhoff disease is nearly identical to the treatment for Tay-Sachs. Any center that specializes in the treatment of Tay-Sachs will also be a center of excellence for Sandhoff disease. The American College of Medical Genetics Clinic Services Search Engine is a resource that patients and doctors can use to locate health specialists that specialize in treating specific syndromes. For Sandhoff disease, check "NeuroMetabolic (includes lysosomal storage diseases)" to find a center nearby.
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.
Are there other names for Sandhoff disease?
There are several other names for Sandhoff disease. These include:
Are there good support groups for Sandhoff disease?
There are some support groups for Sandhoff disease. Many patients may be able to join a support group for Tay-Sachs disease as well because the two conditions are identical. Some support groups include the following:
Are there earlier onset, later onset, or variant forms of Sandhoff disease?
Most cases of Sandhoff disease occur in infants and very young children. However, there have been a few cases of later onset Sandhoff disease in older children or adults. To find out more about other forms 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.
Are there different types of Sandhoff disease?
Most cases of Sandhoff disease are seen in infants. However, there are some patients with Sandhoff disease that do not start to get symptoms until they are older. Sandhoff disease that does not start in infancy can start at anytime during childhood or adulthood. The symptoms seen in older patients are usually not as severe as the symptoms seen in infants. Some of these symptoms include the following:
Are there any other diseases that look like Sandhoff disease?
There is another very similar disease that looks a lot like Sandhoff disease called Tay-Sachs. The symptoms of Sandhoff disease are exactly the same as the symptoms of Tay-Sachs. The difference between these disease is that Tay-Sachs is caused by genetic changes in the HEXA gene.
