Glycogen Storage Disease Type V
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Glycogen Storage Disease Type V is not the name you expected.
Glycogen storage disease type V (GSD-V or McArdle disease) is the most common disorder of skeletal muscle carbohydrate metabolism and one of most frequent genetic myopathies (prevalence ~1:100000). Twelve different types of glycogen storage disease have been described (type 0, I-VII, IX, XI-XIII), which result from defects in glycogen synthesis and breakdown principally in the muscle and liver, although other tissues can also be affected. GSD-V is caused by the lack of the muscle glycogen phosphorylase (myophosphorylase) enzyme. Although symptoms typically begin during the first ten years of life, the age of diagnosis can vary significantly. The characteristic symptoms of GSD-V are exercise intolerance, myalgia (muscle pain), muscle stiffness and contractures, quick fatigue as well as hyperCKemia and myoglobinuria (dark, burgundy-colored urine due to the presence of myoglobin, a protein found in heart and muscles). These symptoms are usually caused by isometric or uninterrupted aerobic exercise. Currently, there is no cure for GSD-V. To manage GSD-V, medical professionals suggest that people affected avoid intense exercise and a completely inactive lifestyle, but do engage in consistent, reasonable aerobic exercise.
Association for Glycogen Storage Disease
- P.O. Box 896
- Durant, IA 52747
- Tel: (563)514-4022
- Fax: (563)514-4022
- Email: email@example.com
- Website: http://www.agsdus.org
Association for Glycogen Storage Disease (UK) Ltd
- Old Hambledon Racecourse
- Sheardley Lane, Droxford
- Hampshire, SO32 3QY
- United Kingdom
- Tel: 3001232790
- Email: firstname.lastname@example.org
- Website: http://www.agsd.org.uk
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
- Email: email@example.com
- Website: http://www.CLIMB.org.uk
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Muscular Dystrophy Association
- 3300 East Sunrise Drive
- Tucson, AZ 85718-3208
- Tel: (520)529-2000
- Fax: (520)529-5300
- Tel: (800)572-1717
- Email: firstname.lastname@example.org
- Website: http://www.mda.org/
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
- Office of Communications & Public Liaison
- Bldg 31, Rm 9A06
- Bethesda, MD 20892-2560
- Tel: (301)496-3583
- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
Vaincre Les Maladies Lysosomales
- 2 Ter Avenue
- Massy, 91300
- Tel: 169754030
- Fax: 160111583
- Email: email@example.com
- Website: http://www.vml-asso.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 6/11/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.