Living with Polyglucosan body myopathy type 1
A rare inherited condition that causes muscle weakness in the legs, heart muscle disease and sometimes frequent infections.
Understanding Polyglucosan body myopathy type 1
It causes slowly worsening weakness of muscles near the center of the body, mainly in the legs, and a fast-progressing heart muscle disease (usually dilated cardiomyopathy). Liver involvement and slow growth may occur. Some people have early-onset immune problems and swelling and irritation (autoinflammation), with repeated bacterial infections. It often starts in childhood or the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness and wasting
- Heart muscle disease (cardiomyopathy) and heart failure
- Enlarged liver and spleen
- Repeated fevers and infections
- Poor weight gain (failure to thrive)
- Stomach pain and long-lasting diarrhea
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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in RBCK1 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
- Brain and nervous system specialists (neurologists); 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 Association for 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 RBCK1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: pgbm1; pgbm1 - polyglucosan body myopathy type 1; polyglucosan body myopathy 1 with or without immunodeficiency; polyglucosan body myopathy without immunodeficiency; polyglucosan body myopathy, early-onset, with or without immunodeficiency
Patient organizations
- Association for Glycogen Storage DiseasePolyglucosan body myopathy type 1 · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Polyglucosan body myopathy type 1.
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