Living with Myofibrillar myopathy 6
A rare inherited muscle condition (Selcen type) with weakness, heart problems, and breathing trouble, starting in childhood.
Understanding Myofibrillar myopathy 6
It causes weakness in the arm and leg muscles and the muscles of the trunk. It is linked to heart muscle disease (cardiomyopathy) and severe breathing difficulty in the teen years. It starts in childhood and progresses quickly.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the trunk and limb muscles
- Heart muscle disease (cardiomyopathy)
- Trouble breathing (respiratory insufficiency)
- Easy tiredness
- Curved spine (scoliosis)
- Walking on tiptoes
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 BAG3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD lists changes in the BAG3 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: bag3 myofibrillar myopathy (disease); muscular dystrophy selcen type; muscular dystrophy, selcen type; myofibrillar myopathy (disease) caused by mutation in bag3; myofibrillar myopathy type 6; myopathy, myofibrillar, type 6
Patient organizations
Rare-disease groups that can help
- 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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