Living with Glycogen storage disease due to muscle beta-enolase deficiency
An inherited muscle disease in which muscles can't make enough energy, causing weakness and pain.
Understanding Glycogen storage disease due to muscle beta-enolase deficiency
Muscles can't produce enough energy to work properly, which causes muscle weakness and pain. It is usually noticed in adulthood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes muscle weakness and pain.
- Muscle weakness
- Muscle pain
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 ENO3 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 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
- 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
- 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 ENO3 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: enolase 3 deficiency; enolase-beta deficiency; glycogen storage disease type 13; glycogen storage disease type xiii; glycogenosis due to muscle beta-enolase deficiency; glycogenosis type 13
Patient organizations
- International Association for Muscle Glycogen Storage DiseaseGlycogen storage disease due to muscle beta-enolase deficiency · United States
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