Rare Pulmonology News

Disease Profile

Glycogen storage disease type 5

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

E74.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

GSD 5; McArdle disease; McArdle type glycogen storage disease;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary

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]

Symptoms

Glycogen storage disease type 5 commonly presents with exercise intolerance, including stiffness or weakness of the muscles, fatigue, muscle cramping, and muscle pain (myalgia).[1][3] Symptoms are brought on by lifting of heavy weights or participation in strenuous exercise (stair climbing, running) and relieved by rest. People with this condition have a unique ability to utilize a phenomenon called "second wind" which allows for resumption of exercise following a brief period of rest. Prolonged activity in the presence of severe pain can lead to muscle damage (rhabdomyolysis) and rust-colored urine (myoglobinuria) with the risk of acute kidney (renal) failure.[3]

The symptoms of glycogen storage disease type 5 usually start during early childhood. Diagnosis, however, is frquently delayed until adulthood.[1][3][4] In some cases, there is a marked worsening of symptoms during middle age that may be accompanied by some degree of muscle wasting.[3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Exercise intolerance
Decreased ability to exercise
Inability to exercise

[ more ]

0003546
Glycogen accumulation in muscle fiber lysosomes
0030231
Highly elevated creatine kinase
0030234
30%-79% of people have these symptoms
Dark urine
0040319
Exercise-induced muscle cramps
Exercise-induced muscle cramping
Muscle cramps following exercise
Muscle cramps on exercise
Muscle cramps on exertion
Muscle cramps with exertion

[ more ]

0003710
Exercise-induced myoglobinuria
0008305
Recurrent myoglobinuria
0003652
Rhabdomyolysis
Breakdown of skeletal muscle
0003201
5%-29% of people have these symptoms
Acute kidney injury
0001919
Exercise-induced muscle stiffness
Muscle stiffness with exercise
Muscle stiffness, exercise-induced

[ more ]

0008967
Exercise-induced myalgia
Exercise-induced muscle pain
Muscle pain on exercise
Muscle pain with exercise
Muscle pain, exercise-induced

[ more ]

0003738
Exertional dyspnea
0002875
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Postexertional malaise
0030973
Progressive proximal muscle weakness
0009073
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Tachycardia
Fast heart rate
Heart racing
Racing heart

[ more ]

0001649
1%-4% of people have these symptoms
Chronic kidney disease
0012622
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase

[ more ]

0003236
Impaired mastication
Chewing difficulties
Chewing difficulty
Difficulty chewing

[ more ]

0005216
Muscle weakness
Muscular weakness
0001324
Myoglobinuria
0002913
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Exercise-induced rhabdomyolysis
0009045
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • 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.

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • 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.
          • 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.

            References

            1. McArdle syndrome. MedlinePlus. 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000329.htm.
            2. Glycogen storage disease type V. Genetics Home Reference. June, 2014; https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v. Accessed 1/2/2016.
            3. Martin MA, Lucia A, Arenas J, Andreu AL. Glycogen storage disease type V. GeneReviews. June 26, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1344/.
            4. Quinlivan R1, Buckley J, James M, Twist A, Ball S, Duno M, et al.. McArdle disease: a clinical review. J Neurol Neurosurg Psychiatry. 2010 Nov; 81(11):1182-8. https://www.ncbi.nlm.nih.gov/pubmed/20861058.

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