Living with Compton-North congenital myopathy
A rare genetic muscle condition seen before and just after birth, with very weak muscles, low tone and tight joints.
Understanding Compton-North congenital myopathy
Before birth, babies may move less, grow slowly and have extra amniotic fluid. After birth, they have severe low muscle tone, weakness of the body, mouth and throat and breathing muscles, and multiple tight joints. A blood test for muscle damage (creatine kinase) is normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Less fetal movement during pregnancy
- Low muscle tone (hypotonia)
- Muscle weakness
- Premature birth
- Tight joints that cannot straighten
- Feeding difficulties
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CNTN1 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
Changes in the CNTN1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: cmyo12; congenital lethal myopathy, compton-north type
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 Compton-North congenital myopathy.
Explore research for Compton-North congenital myopathy
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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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