Overview
Congenital muscular dystrophy type 1C (MDC1C) is a rare inherited muscle disease that is present from birth or becomes noticeable in the first months of life. It is also sometimes called FKRP-related congenital muscular dystrophy or MDC1C. The disease is caused by changes (mutations) in a gene called FKRP, which provides instructions for making a protein that helps keep muscle cells healthy and intact. When this protein does not work properly, muscle fibers become damaged over time and are not repaired normally. Children with MDC1C typically have very weak muscles from birth or early infancy. This weakness affects the whole body, including the muscles needed for movement, breathing, and sometimes the heart. Some children also have brain involvement, which can affect learning and development. The severity can vary quite a bit from person to person, even among people with the same gene change. There is currently no cure for MDC1C. Treatment focuses on managing symptoms, supporting breathing, protecting the heart, and maintaining as much mobility and quality of life as possible. A team of specialists including neurologists, cardiologists, and respiratory therapists work together to provide the best care. Physical therapy, occupational therapy, and assistive devices play an important role in daily life.
Key symptoms:
Severe muscle weakness from birth or early infancyPoor muscle tone (floppy baby appearance)Difficulty or inability to walk independentlyBreathing problems due to weak respiratory musclesHeart muscle weakness (cardiomyopathy)Spine curvature (scoliosis)Joint stiffness or contractures (joints that cannot fully straighten)Delayed motor milestones such as sitting or standingIntellectual disability or learning difficulties in some childrenElevated blood levels of creatine kinase (a muscle enzyme)Facial muscle weakness in some casesDifficulty swallowing in some cases
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)
FDA & Trial Timeline
8 eventsHadassah Medical Organization — NA
Fundación Pública Andaluza para la Investigación de Málaga en Biomedicina y Salud
General Practitioners Research Institute — NA
University of Edinburgh
Mayo Clinic
Hunter Holmes Mcguire Veteran Affairs Medical Center
Atamyo Therapeutics — PHASE1
Gyroscope Therapeutics Limited — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Congenital muscular dystrophy type 1C.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital muscular dystrophy type 1C at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
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 muscular dystrophy type 1C.
Community
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Start the conversation →Latest news about Congenital muscular dystrophy type 1C
Disease timeline:
New recruiting trial: Oral Health In Cirrhosis of the Liver (ORACLE)
A new clinical trial is recruiting patients for Congenital muscular dystrophy type 1C
New recruiting trial: Optimize Risk Prediction After Myocardial Infarction: The ORACLE Study
A new clinical trial is recruiting patients for Congenital muscular dystrophy type 1C
New recruiting trial: A Study of AI in Cardiac Transplant in Echocardiographic Analysis (ORACLE)
A new clinical trial is recruiting patients for Congenital muscular dystrophy type 1C
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 FKRP mutations does my child have, and what do they mean for how severe the disease might be?,How often should we have heart and breathing tests, and what signs should prompt us to seek urgent care?,What therapies — physical, occupational, or speech — does my child need right now, and how often?,Are there any clinical trials or research studies that my child might be eligible for?,At what point might my child need breathing support, and what does that look like in practice?,What support is available for school and learning if my child has cognitive difficulties?,Are other family members at risk, and should siblings or parents be tested?
Common questions about Congenital muscular dystrophy type 1C
What is Congenital muscular dystrophy type 1C?
Congenital muscular dystrophy type 1C (MDC1C) is a rare inherited muscle disease that is present from birth or becomes noticeable in the first months of life. It is also sometimes called FKRP-related congenital muscular dystrophy or MDC1C. The disease is caused by changes (mutations) in a gene called FKRP, which provides instructions for making a protein that helps keep muscle cells healthy and intact. When this protein does not work properly, muscle fibers become damaged over time and are not repaired normally. Children with MDC1C typically have very weak muscles from birth or early infancy.
How is Congenital muscular dystrophy type 1C inherited?
Congenital muscular dystrophy type 1C follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital muscular dystrophy type 1C typically begin?
Typical onset of Congenital muscular dystrophy type 1C is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Congenital muscular dystrophy type 1C?
2 specialists and care centers treating Congenital muscular dystrophy type 1C are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.