Living with Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Also called glycogen storage disease type 0 (muscle): a condition in which the body can't form glycogen, causing muscle pain, weakness, and fainting with activity.
Understanding Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Glycogen is a major source of stored energy. Signs usually begin in early childhood, with muscle pain and weakness or fainting after moderate activity such as climbing stairs. Some people have a heart rhythm disorder called long QT syndrome. It also impairs the heart's ability to pump blood effectively.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble with exercise (exercise intolerance)
- Muscle pain and weakness
- Fainting after activity
- Shortness of breath with exertion
- Difficulty climbing stairs
- Thickened heart muscle
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 genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in GYS1 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
Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation
- 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 Children's Cardiomyopathy Foundation
- 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 GYS1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: glycogen storage disease due to glycogen synthase deficiency of heart; glycogen storage disease type 0, muscle; glycogen storage disease type 0b; glycogenosis due to muscle and heart glycogen synthase deficiency; glycogenosis type 0b; gsd 0b
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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