Overview
Congenital myopathy with internal nuclei and atypical cores is a very rare inherited muscle disease that is present from birth or early infancy. It belongs to a group of conditions called congenital myopathies, which are disorders where the muscles do not develop or function properly. In this specific type, when muscle tissue is examined under a microscope, doctors find two distinctive features: the nuclei (the control centers of muscle cells) are located in the center of the muscle fibers instead of their normal position at the edges, and there are unusual structural abnormalities called "atypical cores" within the muscle fibers. These cores are areas where the normal internal architecture of the muscle cell is disrupted. Patients typically experience muscle weakness that can range from mild to moderate. This weakness often affects the limbs and may also involve the facial muscles and the muscles used for breathing. Babies may present as "floppy" (hypotonic) and may have difficulty feeding or reaching motor milestones like sitting, standing, or walking. Some individuals may develop scoliosis (curvature of the spine) or joint contractures over time. There is currently no cure for this condition. Treatment focuses on managing symptoms and maintaining function through physical therapy, occupational therapy, respiratory support if needed, and orthopedic interventions for skeletal complications. The condition is managed by a multidisciplinary team of specialists who work together to optimize quality of life.
Also known as:
Key symptoms:
Muscle weakness from birth or early infancyFloppy or low muscle tone (hypotonia)Delayed motor milestones such as sitting, standing, or walkingFacial muscle weaknessDifficulty feeding in infancyBreathing difficulties or respiratory weaknessCurvature of the spine (scoliosis)Joint stiffness or contracturesThin or underdeveloped musclesFatigue and reduced enduranceDifficulty running or climbing stairsHigh-arched palate
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital myopathy with internal nuclei and atypical cores.
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Specialists
View all specialists →No specialists are currently listed for Congenital myopathy with internal nuclei and atypical cores.
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 myopathy with internal nuclei and atypical cores.
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Caregiver Resources
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Family & Caregiver Grants
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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 genetic mutation is causing this condition in my child or in me?,How severe is the muscle weakness, and is it expected to stay stable or get worse over time?,Should we be concerned about breathing problems, and how often should lung function be tested?,Is there a risk of malignant hyperthermia with anesthesia, and what precautions should we take?,What physical therapy and rehabilitation programs would be most helpful?,Are there any clinical trials or emerging treatments we should know about?,Should other family members be tested for this condition?
Common questions about Congenital myopathy with internal nuclei and atypical cores
What is Congenital myopathy with internal nuclei and atypical cores?
Congenital myopathy with internal nuclei and atypical cores is a very rare inherited muscle disease that is present from birth or early infancy. It belongs to a group of conditions called congenital myopathies, which are disorders where the muscles do not develop or function properly. In this specific type, when muscle tissue is examined under a microscope, doctors find two distinctive features: the nuclei (the control centers of muscle cells) are located in the center of the muscle fibers instead of their normal position at the edges, and there are unusual structural abnormalities called "aty
At what age does Congenital myopathy with internal nuclei and atypical cores typically begin?
Typical onset of Congenital myopathy with internal nuclei and atypical cores is neonatal. Age of onset can vary across affected individuals.