Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

Get in touch with RARE Concierge.

Contact RARE Concierge

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

Synonyms: GBE deficiency, childhood neuromuscular form | GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form | GSD type 4, childhood neuromuscular form | GSDIV, childhood neuromuscular form | Glycogen storage disease type 4, childhood neuromuscular form | Glycogen storage disease type IV, childhood neuromuscular form | Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form | Glycogenosis type 4, childhood neuromuscular form | Glycogenosis type IV, childhood neuromuscular form

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

Newly diagnosed with
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

association for glycogen storage disease

The Association for Glycogen Storage Disease (AGSD) is a patient advocacy organization dedicated to protecting and promoting the best interest of all persons affected by the glycogen storage disease. • AGSD is committed to the identification, treatment, and cure of glycogen storage disease through programs of education, advocacy, research, and patient services.

Clinical Trials

For a list of clinical trials in this disease area, please click here.