Living with Multiminicore myopathy
A rare inherited muscle condition with muscle weakness, low muscle tone, and sometimes breathing weakness or a curved spine.
Understanding Multiminicore myopathy
It has the features of a congenital myopathy, a muscle disease present from early life. People can have low muscle tone and weakness near the center of the body. Other features can include stiff spine, scoliosis, and weak breathing muscles. It can appear at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness near the center of the body
- Low muscle tone (hypotonia)
- Weak breathing muscles
- Curved spine (scoliosis) and stiff spine
- Joint stiffness or very flexible joints
- Short stature
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
RYR-1 Foundation 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: RYR-1 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 RYR-1 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
Changes in genes (also called variants) cause this condition. It can be autosomal dominant (a changed copy from one parent is enough) or autosomal recessive (a changed copy from each parent).
Also known as: minicore disease; mmd; multi-core congenital myopathy; multi-core disease; multi-minicore disease; multicore disease
Patient organizations
- RYR-1 FoundationMultiminicore myopathy · United States
- Malignant Hyperthermia Association of the United StatesMultiminicore myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiminicore myopathy.
Explore research for Multiminicore myopathy
Explore actively recruiting Multiminicore myopathy studies with HealthSpark.
Find actively recruiting studies for Multiminicore myopathy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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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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