Living with Miyoshi muscular dystrophy 3
An inherited muscle condition (distal anoctaminopathy) causing slowly worsening weakness in the calf muscles, starting in the teen years or adulthood.
Understanding Miyoshi muscular dystrophy 3
Weakness starts in early adulthood, often more on one side, and first affects the calves. Later it can reach muscles closer to the center of the body. Blood tests show very high levels of creatine kinase (CK), an enzyme that points to muscle disease.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the lower legs
- Muscle weakness that gets worse slowly
- Difficulty running
- Muscle stiffness
- Waddling walk
- Changes in how a person walks
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 ANO5 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
This condition is caused by changes in the ANO5 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: distal anoctaminopathy; miyoshi muscular dystrophy type 3; miyoshi myopathy 3; mmd3; mmd3 - miyoshi muscular dystrophy type 3
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 Miyoshi muscular dystrophy 3.
Explore research for Miyoshi muscular dystrophy 3
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