Living with Congenital myopathy
A group of genetic muscle conditions, usually noticed at birth, that cause weakness and low muscle tone.
Understanding Congenital myopathy
Some types do not show symptoms until infancy or childhood. There are many types, and they vary in severity. Some symptoms stay stable and others progress slowly. Symptoms may include weak muscles, trouble breathing or eating, slowly reaching developmental goals, delayed movement skills, and a curved spine.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions these:
- Muscle weakness
- Low muscle tone
- Trouble breathing
- Trouble eating
- Delayed movement skills
- Curved spine
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.
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 rare disease patient organizations for support
- 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 congenital myopathy. There are many types.
Also known as: congenital myopathy, undefined/nonspecific
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital myopathy.
Explore research for Congenital myopathy
Explore actively recruiting Congenital myopathy studies with HealthSpark.
Find actively recruiting studies for Congenital 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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