Living with Congenital myopathy with internal nuclei and atypical cores
A rare genetic muscle condition with weak muscles from birth, muscle aches, and trouble with exercise.
Understanding Congenital myopathy with internal nuclei and atypical cores
Weakness is greater in the hands and feet than closer to the body. Over time, people may have trouble with exercise and muscle aches. Movement is mildly to moderately affected, and people can keep walking. The face, eye, heart, and breathing muscles are not affected. Most people also have mild thinking and learning difficulties.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness
- Trouble with exercise (exercise intolerance)
- Muscle aches (myalgia)
- Frequent falls
- Delayed movement skills (motor delay)
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 CCDC78 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 CCDC78 gene. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: centronuclear myopathy 4; centronuclear myopathy type 4; cnm4; myopathy, centronuclear, 4; myopathy, centronuclear, type 4
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital myopathy with internal nuclei and atypical cores.
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