Living with Polyglucosan body myopathy type 2
A rare inherited muscle condition that causes slowly worsening weakness in the shoulders and hips, starting any time from childhood to late adulthood.
Understanding Polyglucosan body myopathy type 2
An abnormal sugar-like substance (polyglucosan) builds up in muscle fibers. Weakness mostly affects muscles around the shoulders and hips (limb-girdle muscles). Some people have trouble with exercise or muscle aches. The age at onset ranges from childhood to late adulthood. GARD says there is usually no clear heart involvement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness of the hip muscles
- Weakness of the shoulder muscles
- Muscle twitching (fibrillation)
- Exercise intolerance or muscle aches (variable)
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 GYG1 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 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 GYG1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: gyg1 polyglucosan body myopathy; pgbm2 - polyglucosan body myopathy type 2; polyglucosan body myopathy caused by mutation in gyg1
Patient organizations
- International Association for Muscle Glycogen Storage DiseasePolyglucosan body myopathy type 2 · United States
- Association for Glycogen Storage DiseasePolyglucosan body myopathy type 2 · United States
- The Children's Fund for Glycogen Storage Disease ResearchPolyglucosan body myopathy type 2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Polyglucosan body myopathy type 2.
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