Clinical utility gene card for McArdle disease
Related Experiment Video
Updated: Feb 15, 2026
In Silico Clinical Trials for Cardiovascular Disease
Published on: May 27, 2022
Rhonda L Taylor1,2, Mark Davis3, Emma Turner1,2
1Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, WA, 6009, Australia.
Insights
This review assesses DNA testing for McArdle disease (glycogenosis type V) by examining the muscle glycogen phosphorylase (PYGM) gene. It evaluates the accuracy and usefulness of genetic testing for diagnosis, prediction, prenatal screening, and family risk assessment.
Area of Science:
- Biochemistry
- Genetics
- Clinical Diagnostics
Background:
- McArdle disease, also known as glycogen storage disease V (GSDV), is a genetic disorder affecting muscle energy metabolism.
- It results from deficiency of the muscle glycogen phosphorylase enzyme, encoded by the PYGM gene.
- Accurate genetic diagnosis is crucial for patient management and family counseling.
Purpose of the Study:
- To review the analytical and clinical validity of DNA-based testing for PYGM gene variants.
- To assess the clinical utility of genetic testing in diagnostic, predictive, prenatal, and risk assessment settings for McArdle disease.
- To provide an evidence-based overview for clinicians and researchers.
Main Methods:
- Systematic literature review of studies reporting on PYGM gene variants and associated testing.
- Evaluation of diagnostic accuracy, clinical correlation, and utility of genetic testing in various clinical scenarios.
- Analysis of data regarding analytical validity (sensitivity, specificity) and clinical validity (association with phenotype).
Main Results:
- DNA-based testing for PYGM gene variants demonstrates high analytical validity for detecting mutations.
- Clinical validity is established, linking specific PYGM genotypes to the McArdle disease phenotype.
- Clinical utility is confirmed across diagnostic, prenatal, and carrier screening applications, aiding in informed decision-making.
Conclusions:
- DNA testing for PYGM gene variants is a reliable and valuable tool for diagnosing McArdle disease.
- Genetic testing facilitates accurate risk assessment for relatives and supports reproductive choices through prenatal diagnosis.
- Further research can refine genotype-phenotype correlations and expand the clinical applications of PYGM genetic testing.
Abstract:
Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; myophosphorylase deficiency). OMIM# of the disease #232600. Name of the analysed genes or DNA/chromosome segments Muscle glycogen phosphoryalse (PYGM). OMIM# of the gene(s) #608455.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in the PYGM gene(s) in⊠ diagnostic,⊠ predictive and⊠ prenatal settings and for⊠ risk assessment in relatives.
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