Living with Myotonic dystrophy type 2
An inherited muscle condition (proximal myotonic myopathy) with stiff, weak, painful muscles and effects on the heart, eyes, and blood sugar.
Understanding Myotonic dystrophy type 2
It causes prolonged muscle tensing (myotonia) along with muscle weakness, pain, and stiffness. It can also affect the heart, eyes, and pancreas. Signs usually develop in a person's twenties or thirties. Muscles in the neck, fingers, elbows, and hips are typically affected. Severity varies widely, even in the same family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle stiffness (myotonia)
- Weakness near the center of the body
- Muscle aches
- Cataracts
- Type 2 diabetes or insulin resistance
- Trouble swallowing
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 hormone specialists.
- 3Consider genetic testing
Changes in CNBP 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 Resolve: The National Infertility Association 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); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Myotonic Dystrophy Foundation, Muscular Dystrophy Association, Resolve: The National Infertility 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
It is caused by changes in the CNBP gene. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: cnbp myotonic dystrophy; dm2; myotonic dystrophy caused by mutation in cnbp; myotonic myopathy, proximal; proximal myotonic dystrophy; proximal myotonic myopathy
Patient organizations
- Myotonic Dystrophy FoundationMyotonic dystrophy type 2 · United States
- Muscular Dystrophy AssociationMyotonic dystrophy type 2 · United States
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with Myotonic dystrophy type 2.
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