The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal diaphysis morphology||90%|
|Abnormality of epiphysis morphology||90%|
|Abnormality of the metaphyses||90%|
|Aplasia/Hypoplasia of the abdominal wall musculature||90%|
|Coarse facial features||90%|
|Depressed nasal ridge||90%|
|Limitation of joint mobility||90%|
|Rough bone trabeculation||90%|
|Abnormal form of the vertebral bodies||50%|
|Abnormality of the tongue||50%|
|Camptodactyly of finger||50%|
|Hernia of the abdominal wall||50%|
|Opacification of the corneal stroma||50%|
|Abnormality of the macula||7.5%|
|Abnormality of the retinal vasculature||7.5%|
|Abnormality of the scrotum||7.5%|
|Congestive heart failure||7.5%|
|Recurrent respiratory infections||7.5%|
GM1 gangliosidosis is type-specific within families. This means that people with a family history of the condition are generally only at increased risk for the specific type of GM1 gangliosidosis in the family.
Bone marrow transplantation was reportedly successful in an individual with infantile/juvenile GM1 gangliosidosis; however, no long-term benefit was reported. Presymptomatic cord-blood hematopoietic stem-cell transplantation has been advocated by some as a possible treatment due to its success in other lysosomal storage disorders. Active research in the areas of enzyme replacement and gene therapy for the condition is ongoing but has not yet advanced to human trials.
Neurologic and orthopedic sequelae may prevent adequate physical activity, but affected individuals may benefit from physical and occupational therapy.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I am a surviving twin - my twin brother passed away at the age of 23. He had GM1 as did my elder sister. Is GM1 hereditary? My daughter is 24 and thinking of the future and starting a family. I also have a 15 yr old son. See answer
Have there ever been survivors of GM1? See answer
Is physical therapy of any benefit to a 6-month-old with GM1? See answer