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Diseases

Genetic and Rare Diseases Information Center (GARD)

Glycogen storage disease type 5


Other Names for this Disease
  • GSD 5
  • McArdle disease
  • McArdle type glycogen storage disease
  • PYGM deficiency
  • Muscle glycogen phosphorylase deficiency
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Overview

Glycogen storage disease type 5 (GSDV) is a genetic disorder that prevents the body from breaking down glycogen. Glycogen is an important source of energy that is stored in muscle tissue. People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance).[1] Usually, when people with this disease rest after brief exercise they can resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind").[2] The signs and symptoms can vary significantly and may include burgundy-colored urine, fatigue, exercise intolerance, muscle cramps, muscle pain, muscle stiffness, and muscle weakness. It is caused by mutations in the PYGM gene and is inherited in an autosomal recessive fashion.[1] There is no cure or specific treatment but the disease can be managed with moderate-intensity aerobic training (e.g., walking or brisk walking, bicycling) and diet.[3]
Last updated: 1/2/2016

References

  1. McArdle syndrome. MedlinePlus. 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000329.htm. Accessed 1/2/2016.
  2. Glycogen storage disease type V. Genetics Home Reference. June, 2014; http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v. Accessed 1/2/2016.
  3. Arenas J, Martin MA & Andreu AL. Glycogen storage disease type V. GeneReviews. June 26, 2014; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gsd5. Accessed 1/2/2016.
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Basic 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.
    Type V Glycogen Storage Disease
    Genetics of Glycogen-Storage Disease Type V
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • 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 Glycogen storage disease type 5. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • GSD 5
  • McArdle disease
  • McArdle type glycogen storage disease
  • PYGM deficiency
  • Muscle glycogen phosphorylase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.