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ClinGen Actionability GSD5

From SNPedia

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Annual routine physical examination and review of diet.
  • Avoid repetitive episodes of muscle damage that may lead to rhabdomyolysis and fixed weakness.
  • Be aware risk for acute muscle damage from certain general anesthetics (usually muscle relaxants and inhaled anesthetics.
  • Statin-induced myopathy risk may be increased 12-20 fold for all carriers of a PYGM pathogenic mutation.

The full ClinGen Actionability report about Glycogen storage disease V can be found here.

Genetic counseling may be available to you through your health-care network. Additional information is available via our Find A Genetic Counselor webpage, located here.