Living with MEGF10-related myopathy
A rare inherited muscle condition starting in infancy with severe weakness, breathing trouble, and a curved spine.
Understanding MEGF10-related myopathy
It involves early, severe muscle weakness, breathing trouble from a weak diaphragm, swallowing difficulty, stiff joints, and scoliosis. Some babies move less before birth. The course varies. Some people need help with a ventilator and never learn to walk.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone
- Breathing difficulty
- Swallowing difficulty
- Absent tendon reflexes
- Scoliosis
- Reduced 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 MEGF10 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 National Foundation of Swallowing Disorders
- 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 the MEGF10 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cmyo10a; congenital myopathy 10a, severe variant; early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome; early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome; emardd; emardd (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome
Patient organizations
- National Foundation of Swallowing DisordersMEGF10-related myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with MEGF10-related myopathy.
Explore research for MEGF10-related myopathy
Explore actively recruiting MEGF10-related myopathy studies with HealthSpark.
Find actively recruiting studies for MEGF10-related 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting MEGF10-related myopathy studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for MEGF10-related myopathy
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your MEGF10-related myopathy experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.