Overview
Congenital lethal myopathy, Compton-North type, is an extremely rare and severe inherited muscle disease that is present from birth. This condition affects the skeletal muscles throughout the body, causing profound muscle weakness and poor muscle tone (hypotonia) in newborn babies. The disease is named after the researchers who first described it. Babies born with this condition typically show very little spontaneous movement, have serious difficulty breathing on their own, and are unable to feed properly. The muscle weakness is so severe that affected infants usually cannot survive beyond the first weeks or months of life, even with intensive medical support. The underlying problem in this disease involves the structure and function of muscle fibers. Under microscopic examination, the muscle tissue shows distinctive abnormalities that help doctors distinguish it from other forms of congenital myopathy. These changes reflect a fundamental problem in how the muscles develop and maintain their structure. Because of the severity and early lethality of this condition, treatment options are extremely limited and are focused entirely on supportive care. This may include mechanical ventilation to assist breathing, tube feeding for nutrition, and comfort measures. There are currently no curative treatments or disease-modifying therapies available for this condition. Genetic counseling is an important part of care for affected families to understand the risk of recurrence in future pregnancies.
Key symptoms:
Severe muscle weakness from birthVery low muscle tone (floppy baby)Inability to breathe without assistanceDifficulty or inability to feedLittle or no spontaneous movementJoint contractures (stiff joints)Reduced fetal movements during pregnancyExcess amniotic fluid during pregnancy (polyhydramnios)Thin or underdeveloped musclesFacial weaknessWeak or absent cry
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital lethal myopathy, Compton-North type.
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Specialists
View all specialists →No specialists are currently listed for Congenital lethal myopathy, Compton-North type.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Congenital lethal myopathy, Compton-North type.
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Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific tests have confirmed this diagnosis, and are there any other conditions that could explain these symptoms?,What is the expected course of this condition for our baby?,What supportive care options are available, and what are the benefits and limitations of each?,Can we speak with a palliative care team to help us make decisions about our baby's care?,What genetic testing should our family undergo to understand the risk for future pregnancies?,Are there any research studies or clinical trials related to this condition?,What emotional support and counseling resources are available for our family?
Common questions about Congenital lethal myopathy, Compton-North type
What is Congenital lethal myopathy, Compton-North type?
Congenital lethal myopathy, Compton-North type, is an extremely rare and severe inherited muscle disease that is present from birth. This condition affects the skeletal muscles throughout the body, causing profound muscle weakness and poor muscle tone (hypotonia) in newborn babies. The disease is named after the researchers who first described it. Babies born with this condition typically show very little spontaneous movement, have serious difficulty breathing on their own, and are unable to feed properly. The muscle weakness is so severe that affected infants usually cannot survive beyond the
How is Congenital lethal myopathy, Compton-North type inherited?
Congenital lethal myopathy, Compton-North type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital lethal myopathy, Compton-North type typically begin?
Typical onset of Congenital lethal myopathy, Compton-North type is neonatal. Age of onset can vary across affected individuals.