Living with Miyoshi myopathy
An inherited muscle condition that begins with weakness and wasting in the calf muscles in early to mid-adulthood.
Understanding Miyoshi myopathy
In early to mid-adulthood, people usually have weakness and wasting in one or both calves. This can make it hard to stand on tiptoe. Over time it spreads up the leg and can involve the thigh, buttock, upper arm, and shoulder muscles. Some people eventually need a wheelchair. Rarely, abnormal heart rhythms have been seen. Blood levels of the enzyme creatine kinase (CK) are very high.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness and wasting of the calf muscles
- Difficulty climbing stairs
- Difficulty standing
- Muscle pain with exercise
- Weakness in the hips and shoulders
- 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 DYSF 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
Jain Foundation and Muscular Dystrophy Association 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: Jain Foundation, Muscular Dystrophy Association
- 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 Jain Foundation 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
This condition is caused by changes in the DYSF gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: miyoshi distal myopathy; miyoshi muscular dystrophy; mm
Patient organizations
- Jain FoundationMiyoshi myopathy · United States
- Muscular Dystrophy AssociationMiyoshi myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Miyoshi myopathy.
Explore research for Miyoshi myopathy
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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