Glycogen storage disease due to muscle glycogen phosphorylase deficiency

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Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Synonyms: GSD due to muscle glycogen phosphorylase deficiency | GSD type 5 | GSD type V | Glycogen storage disease type 5 | Glycogen storage disease type V | Glycogenosis due to muscle glycogen phosphorylase deficiency | Glycogenosis type 5 | Glycogenosis type V | McArdle disease | Myophosphorylase deficiency

Myophosphorylase deficiency (McArdle’s disease) or glycogen storage disease type 5 (GSD5) is a severe form of glycogen storage disease characterized by exercise intolerance.

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 September 2023.

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Glycogen storage disease due to muscle glycogen phosphorylase deficiency?

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Advocacy Organizations

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.

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.

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).

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.

Clinical Trials

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