Living with Autosomal dominant centronuclear myopathy
A group of rare inherited muscle conditions that cause weakness, with severity ranging from mild to severe.
Understanding Autosomal dominant centronuclear myopathy
In the mild form, features often start in the teen years or early adulthood with slowly worsening muscle weakness, muscle pain with exercise, and trouble walking. In more severe cases, low muscle tone and weakness show up in infancy or early childhood, and a wheelchair may be needed in childhood or adolescence.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the upper arms and thighs
- Low muscle tone
- Delayed motor skills
- Drooping upper eyelid (ptosis)
- Trouble walking
- Less fetal movement before birth
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.
- 3Consider genetic testing
Changes in DNM2 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
Joshua Frase 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: Joshua Frase 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 Joshua Frase 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 most cases are caused by changes in the DNM2 gene, and some families have changes in the MYF6 or CCDC78 genes. It is autosomal dominant, meaning one changed copy of the gene can be enough.
Also known as: ad-cnm; autosomal dominant centronuclear myopathy caused by mutation in myf6; centronuclear myopathy 1; centronuclear myopathy, autosomal dominant; centronuclear myopathy, autosomal, modifier of; cnm1
Patient organizations
- Joshua Frase FoundationAutosomal dominant centronuclear myopathy · United States
- Muscular Dystrophy AssociationAutosomal dominant centronuclear myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant centronuclear myopathy.
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