Living with Congenital multicore myopathy with external ophthalmoplegia
A rare genetic muscle condition causing weakness from infancy, including weakness of the eye muscles.
Understanding Congenital multicore myopathy with external ophthalmoplegia
It may cause low muscle tone (hypotonia) in newborns, delayed movement skills, and generalized muscle weakness. It can also weaken the muscles that move the eyes (external ophthalmoplegia). Under the microscope, muscle samples show small areas called minicores.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (generalized hypotonia)
- Muscle weakness
- Delayed movement skills (motor delay)
- Weak or paralyzed eye muscles
- Feeding difficulties
- Less fetal movement before birth
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 RYR1 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
RYR-1 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: RYR-1 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 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
It is caused by changes in the RYR1 gene, which makes a protein called ryanodine receptor 1. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cmyo1b; congenital myopathy 1b, autosomal recessive; minicore myopathy; minicore myopathy with external ophthalmoplegia; minicore myopathy, antenatal onset, with arthrogryposis; multiminicore disease with external ophthalmoplegia
Patient organizations
- RYR-1 FoundationCongenital multicore myopathy with external ophthalmoplegia · United States
- Muscular Dystrophy AssociationCongenital multicore myopathy with external ophthalmoplegia · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital multicore myopathy with external ophthalmoplegia.
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