Living with Glycogen storage disease, type VII
An inherited condition in which muscle cells can't break down glycogen, with four types that differ in symptoms and when they start.
Understanding Glycogen storage disease, type VII
There are four types. The classical form is the most common and usually appears in childhood, with muscle pain and cramps after moderate exercise and nausea and vomiting after strenuous exercise. Muscle breakdown can release myoglobin into the urine and may damage the kidneys. A severe infantile form involves low muscle tone, weakness, and heart and breathing problems. In the late-onset form, muscle disease is typical.
Signs & symptoms
Symptoms vary by type. GARD lists these among the most common:
- Muscle weakness
- Muscle pain and cramps with exercise
- Muscle stiffness (myotonia)
- Anemia (low red blood cells)
- Muscle wasting
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 blood and bone marrow specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PFKM 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
- Blood and bone marrow specialists (hematologists); 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 PFKM 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 pfkm; glycogen storage disease due to muscle phosphofructokinase deficiency; glycogen storage disease type 7; glycogen storage disease type vii; glycogen storage disease vii; glycogen storage disease, type 7
Patient organizations
- International Association for Muscle Glycogen Storage DiseaseGlycogen storage disease, type VII · United States
- Muscular Dystrophy AssociationGlycogen storage disease, type VII · United States
- Association for Glycogen Storage DiseaseGlycogen storage disease, type VII · United States
You are more than your diagnosis
Perspectives from people navigating life with Glycogen storage disease, type VII.
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