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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 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"). 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. 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.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).
Last updated: 1/2/2016
- McArdle syndrome. MedlinePlus. 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000329.htm. Accessed 1/2/2016.
- 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.
- 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.
- The Association for Glycogen Storage Disease has a page with an overview of Glycogen storage disease type 5.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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
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- 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 Glycogen storage disease type 5. Click on the link to view a sample search on this topic.