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.
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- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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Type V Glycogen Storage Disease
Genetics of Glycogen-Storage Disease Type V
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