Living with Myotonic dystrophy
An inherited muscle condition with slowly worsening weakness and muscles that are slow to relax; the most common adult-onset muscular dystrophy.
Understanding Myotonic dystrophy
It is the most common muscular dystrophy that starts in adulthood. People have prolonged muscle contractions (myotonia), such as trouble letting go of a doorknob. Other features include cataracts, heart rhythm changes, and diabetes in some people. Features often appear in a person's twenties or thirties. There are two main types: type 1 and type 2, which tends to be milder.
Signs & symptoms
GARD doesn't list a detailed symptom list, but the summary describes these features:
- Muscle wasting and weakness
- Muscles slow to relax (myotonia)
- Slurred speech
- Temporary locking of the jaw
- Cloudy lenses in the eyes (cataracts)
- Heart rhythm changes (cardiac conduction defects)
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
Myotonic Dystrophy 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: 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 says changes in genes cause this condition, and the two types are caused by changes in different genes.
Also known as: dm - dystrophia myotonica; dystrophia myotonica; inherited myotonic dystrophy; myotonia atrophica; myotonia dystrophica
Patient organizations
- Myotonic Dystrophy FoundationMyotonic dystrophy · United States
- Muscular Dystrophy AssociationMyotonic dystrophy · United States
You are more than your diagnosis
Perspectives from people navigating life with Myotonic dystrophy.
Explore research for 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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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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