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 2024
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Glycogen storage disease due to muscle glycogen phosphorylase deficiency?
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Advocacy Organizations
Project CASK
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.