Living with Steinert myotonic dystrophy syndrome
An inherited muscle condition with weakness and muscles that are slow to relax, which can also affect the heart, eyes, and brain.
Understanding Steinert myotonic dystrophy syndrome
It can also affect the heart, eyes, hormone system, and brain. There are three forms that overlap: mild, classic, and congenital (present at birth). The classic form involves muscle weakness and wasting, muscles that stay tense (myotonia), cataracts, and often heart rhythm problems. The congenital form involves severe weakness at birth, which can cause breathing problems. It can begin at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness
- Muscles slow to relax (myotonia)
- Cataracts
- Heart rhythm problems
- Daytime sleepiness and sleep apnea
- Fatigue
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, eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in DMPK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Myotonic Dystrophy Foundation, Muscular Dystrophy Association and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Myotonic Dystrophy Foundation, Muscular Dystrophy Association, Children's Cardiomyopathy Foundation
- 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
Changes in the DMPK gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: dm1; dmpk myotonic dystrophy; dystrophia myotonica type 1; md1; myotonic dystrophy caused by mutation in dmpk; myotonic dystrophy of steinert
Patient organizations
- Myotonic Dystrophy FoundationSteinert myotonic dystrophy syndrome · United States
- Muscular Dystrophy AssociationSteinert myotonic dystrophy syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Steinert myotonic dystrophy syndrome.
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