Living with Centronuclear myopathy
A muscle condition that causes weakness and wasting that slowly worsens, starting any time from birth to early adulthood.
Understanding Centronuclear myopathy
Severity varies, even within one family. Weakness starts anytime from birth to early adulthood and slowly worsens. It can delay motor skills such as crawling or walking, cause muscle pain with exercise, and make walking hard.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its summary describes these features:
- Muscle weakness
- Muscle wasting (atrophy)
- Delayed crawling or walking
- Muscle pain during exercise
- Trouble walking
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
Joshua Frase Foundation, 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: Joshua Frase Foundation, 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 Joshua Frase 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
GARD says changes in genes cause this condition. It can be inherited in autosomal dominant, autosomal recessive, or X-linked ways. No specific gene is listed.
Also known as: centronuclear myopathy, congenital; cnm; myopathy, centronuclear; myotubular myopathy
Patient organizations
- Joshua Frase FoundationCentronuclear myopathy · United States
- RYR-1 FoundationCentronuclear myopathy · United States
- Muscular Dystrophy AssociationCentronuclear myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Centronuclear myopathy.
Explore research for Centronuclear myopathy
Explore actively recruiting Centronuclear myopathy studies with HealthSpark.
Find actively recruiting studies for Centronuclear 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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