Living with Glycogen storage disease, type V
Also called McArdle disease: an inherited condition in which muscles can't break down glycogen, causing fatigue, pain, and cramps in the first minutes of exercise.
Understanding Glycogen storage disease, type V
People usually have tiredness, muscle pain, and cramps in the first few minutes of exercise, which eases with rest. Many can resume exercise with little discomfort after resting (the "second wind" effect). Prolonged or intense exercise can damage muscle, and about half of people have muscle breakdown (rhabdomyolysis). It usually begins in the teens or twenties but can appear any time from infancy to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle tiredness with exercise
- Muscle cramps with exercise
- Muscle breakdown (rhabdomyolysis)
- Dark or rust-colored urine
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PYGM are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
International Association for Muscle Glycogen Storage Disease and Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: International Association for Muscle Glycogen Storage Disease, Muscular Dystrophy Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with International Association for Muscle Glycogen Storage Disease and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PYGM gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: glycogen storage disease caused by mutation in pygm; glycogen storage disease due to muscle glycogen phosphorylase deficiency; glycogen storage disease type 5; glycogen storage disease type v; glycogen storage disease v; glycogenosis due to muscle glycogen phosphorylase deficiency
Patient organizations
- International Association for Muscle Glycogen Storage DiseaseGlycogen storage disease, type V · United States
- Muscular Dystrophy AssociationGlycogen storage disease, type V · United States
- Association for Glycogen Storage DiseaseGlycogen storage disease, type V · United States
You are more than your diagnosis
Perspectives from people navigating life with Glycogen storage disease, type V.
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