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  3. GM1 gangliosidosis type 2
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GM1 gangliosidosis type 2


Title


Other Names:
Gangliosidosis generalized GM1 type 2; Gangliosidosis generalized GM1 juvenile type
Categories:
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Musculoskeletal Diseases; Nervous System Diseases See More

Summary Summary


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GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.[1][2]
Last updated: 11/17/2015

Symptoms Symptoms


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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.

Showing of 15 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the face
Abnormal face
Facial abnormality
[ more ]
0000271
Abnormality of the liver
Abnormal liver
Liver abnormality
[ more ]
0001392
Abnormality of the spleen 0001743
Ataxia 0001251
Autosomal recessive inheritance 0000007
Cerebral atrophy
Degeneration of cerebrum
0002059
Coxa valga 0002673
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
0001288
Generalized myoclonic seizures 0002123
Optic atrophy 0000648
Platyspondyly
Flattened vertebrae
0000926
Progressive psychomotor deterioration 0007272
Sea-blue histiocytosis 0001982
Spastic tetraplegia 0002510
Ventriculomegaly 0002119
Showing of 15 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 4/1/2018
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research


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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.

Patient Registry

  • The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations Organizations


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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.

Organizations Supporting this Disease

  • Children Living with Inherited Metabolic Diseases (CLIMB)
    Climb Building
    176 Nantwich Road
    Crewe CW2 6BG
    United Kingdom
    Toll-free: 0800 652 3181
    Telephone: 0845 241 2173
    E-mail: contact@climb.org.uk
    Website: http://www.climb.org.uk
  • Cure GM1 Foundation
    PO Box 6890
    Albany , CA 94706
    E-mail: info@curegm1.org
    Website: http://curegm1.org/
  • Hide and Seek Foundation for Lysosomal Storage Disease Research
    4123 Lankershim Boulevard
    6475 East Pacific Coast Highway
    Suite 466
    Long Beach, CA 90803
    Telephone: 877-621-1122
    Fax: 818-762-2502
    E-mail: info@hideandseek.org
    Website: http://www.hideandseek.org
  • National Tay-Sachs and Allied Diseases Association (NTSAD)
    2001 Beacon Street, Suite 204
    Boston, MA 02135
    Toll-free: 800-906-8723
    Fax: 617-277-4463
    E-mail: info@ntsad.org
    Website: https://www.ntsad.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

Where to Start

  • The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
  • Genetics Home Reference (GHR) contains information on GM1 gangliosidosis type 2. This website is maintained by the National Library of Medicine.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Tay-Sachs and Allied Diseases Association, Inc. provides information about GM1 gangliosidosis. Click on the link to access this information.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss GM1 gangliosidosis type 2. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • National DNA Day Reddit "Ask Me Anything" (AMA) Series
    April 11, 2018

  • 2017 Million Dollar Bike Ride Pilot Grant Program
    August 30, 2017

NCATS Co-Sponsored Conferences

  • 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

Related Diseases Related Diseases


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The following diseases are related to GM1 gangliosidosis type 2. If you have a question about any of these diseases, you can contact GARD.

  • Gangliosidosis
  • GM1 gangliosidosis

GARD Answers GARD Answers


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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

  • My son has been diagnosed with GM1 gangliosidosis. Please tell me more about this condition. See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. GM1 gangliosidosis. Genetics Home Reference. August 2013; http://ghr.nlm.nih.gov/condition/gm1-gangliosidosis.
  2. Anna Caciotto, Maria Alice Donati, and Amelia Morrone. GM1 Gangliosidosis. Orphanet. May, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

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