Living with Congenital myopathy with myasthenic-like onset
A rare genetic muscle condition with weakness that worsens with activity, droopy eyelids, and feeding trouble from infancy.
Understanding Congenital myopathy with myasthenic-like onset
Babies have low muscle tone in the trunk, a muscle-weak face with droopy eyelids that tire easily, and feeding difficulties. Gross motor skills are delayed, and the upper arms and upper legs are weak. Curved spine (scoliosis) and frequent respiratory infections are also seen. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness that worsens with activity
- Droopy upper eyelids (ptosis)
- Low muscle tone in the trunk
- Feeding difficulties
- Delayed movement skills (motor delay)
- Curved spine (scoliosis)
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. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Patient organizations
- RYR-1 FoundationCongenital myopathy with myasthenic-like onset · United States
- Muscular Dystrophy AssociationCongenital myopathy with myasthenic-like onset · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital myopathy with myasthenic-like onset.
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