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 (
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of glycosphingolipid metabolism||0004343|
|Abnormality of movement||
Unusual movement[ more ]
|Cherry red spot of the macula||0010729|
|Failure to thrive||
Weight faltering[ more ]
Hearing defect[ more ]
Round back[ more ]
Increased size of skull
Large head circumference[ more ]
Progressive degeneration of movement
|Progressive psychomotor deterioration||0007272|
|30%-79% of people have these symptoms|
Increased size of cheeks
Large cheeks[ more ]
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
Increased spleen size
|5%-29% of people have these symptoms|
|Congestive heart failure||
Heart failure[ more ]
|Percent of people who have these symptoms is not available through HPO|
Increased heart size[ more ]
|Coarse facial features||
Coarse facial appearance
Difficulty articulating speech
|Episodic abdominal pain||0002574|
Enlarged liver and spleen
Sweating, increased[ more ]
Decreased ability to sweat
Sweating, decreased[ more ]
|Impaired thermal sensitivity||0006901|
Difficulty getting a full erection
Difficulty getting an erection
Erectile dysfunction[ more ]
Abnormally large tongue
Increased size of tongue
Large tongue[ more ]
|Skeletal muscle atrophy||
Muscle wasting[ more ]
Loss of bladder control
Mutations in the HEXB gene disrupt the activity of beta-hexosaminidase A and beta-hexosaminidase B, which prevents these enzymes from breaking down GM2 ganglioside and other molecules. As a result, these compounds can accumulate to toxic levels, particularly in neurons of the brain and spinal cord. A buildup of GM2 ganglioside leads to the progressive destruction of these neurons, which causes many of the signs and symptoms of Sandhoff disease.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
National DNA Day Reddit "Ask Me Anything" (AMA) Series
April 11, 2018
2017 Million Dollar Bike Ride Pilot Grant Program
August 30, 2017
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis
Sunday, June 15, 2014 -
Friday, June 20, 2014
Location: Proctor Academy, Andover, NH
Description: The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.
Contact: Alexandra Ainsztein, Ph.D.(301) 594-0828, Alexandra.Ainsztein@nih.gov
Co-funding Institute(s): National Institute of General Medical Sciences, Office of Rare Diseases Research
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I may be a carrier for Sandhoff disease. I am pregnant, non-Jewish and my hexosaminidase A is slightly elevated. The test was not definitive. I am negative for Tay Sachs. My husband is NOT a carrier for Sandhoff and due to this I have been discouraged from getting further testing. Both of my parents asked for Sandhoff testing but were given Tay Sachs tests and both were negative. I am concerned for my extended family. They should know if we have a genetic disorder but I do not want to alarm anyone needlessly. Is there any advice that can be given? All of your help is greatly appreciated. See answer
Is there a cure for Sandhoff disease? Are there effective treatments for this condition? What is the prognosis for an affected individual? See answer