Living with Congenital myotonic dystrophy
Myotonic dystrophy, a muscle condition, that is present at birth.
Understanding Congenital myotonic dystrophy
GARD gives very little detail about this condition. Its summary only says it is myotonic dystrophy that is present at birth.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Myotonic Dystrophy Foundation and Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Myotonic Dystrophy 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 Myotonic Dystrophy 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 doesn't describe a cause for this condition yet.
Also known as: congenital-onset myotonic dystrophy type 1; congenital-onset steinert disease
Patient organizations
- Myotonic Dystrophy FoundationCongenital myotonic dystrophy · United States
- Muscular Dystrophy AssociationCongenital myotonic dystrophy · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital myotonic dystrophy.
Explore research for Congenital myotonic dystrophy
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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