Living with Myosin storage myopathy
An inherited muscle condition with weakness that stays about the same or worsens very slowly, usually noticed in childhood.
Understanding Myosin storage myopathy
Clumps of a protein called myosin form in certain muscle fibers. Signs usually show up in childhood, though they can start later. People may start walking later, have a waddling walk, have trouble climbing stairs, and have trouble lifting their arms above the shoulders. Some people also have trouble breathing from muscle weakness.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness
- Weak shoulder muscles
- Winged shoulder blades
- Larger-looking calf muscles
- Trouble climbing stairs
- Waddling walk
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 MYH7 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 MYH7 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant myosin storage myopathy; cmyo7a; congenital myopathy 7a, myosin storage, autosomal dominant; msma; myh7-related myosin storage myopathy; myh7-related scapuloperoneal myopathy
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
You are more than your diagnosis
Perspectives from people navigating life with Myosin storage myopathy.
Explore research for Myosin storage myopathy
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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