Overview
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome is a rare genetic condition that affects the muscles and joints. It is caused by changes (mutations) in both copies of the MYBPC1 gene, which provides instructions for making a protein called slow skeletal myosin-binding protein C. This protein plays an important role in how muscle fibers are organized and how muscles contract. When this protein does not work properly, muscles develop abnormally, leading to joint problems that begin before birth. The most noticeable feature of this condition is arthrogryposis multiplex congenita (AMC) — a term that means multiple joints are stuck in fixed, bent or straightened positions at birth. This happens because reduced fetal movement in the womb allows extra tissue to form around the joints. Affected individuals may have stiff joints in the arms, legs, hands, or feet, along with muscle weakness and reduced muscle mass. Some people also experience tremors (shaking) or other muscle-related symptoms. Importantly, this form of arthrogryposis is described as non-lethal, meaning most affected individuals survive into adulthood. There is currently no cure for this condition. Treatment focuses on improving joint movement, strength, and independence. This typically involves physical therapy, occupational therapy, and sometimes surgery to release tight joints or correct deformities. With early and consistent care, many people with this condition can improve their function and quality of life significantly.
Key symptoms:
Multiple joints fixed in bent or straightened positions at birth (arthrogryposis)Muscle weakness, especially in the limbsReduced muscle mass (thin or underdeveloped muscles)Stiff or limited joint movementClubfoot (feet turned inward or downward)Curved spine (scoliosis) in some individualsTremors or involuntary shaking of the musclesDifficulty with fine motor tasks like gripping or writingDelayed motor milestones such as sitting or walkingJoint contractures that may affect the hips, knees, elbows, or wrists
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 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome.
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Specialists
View all specialists →No specialists are currently listed for MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome.
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 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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.Which joints are affected in my child's case, and how severe are the contractures?,What type of genetic testing should we do to confirm the diagnosis, and should other family members be tested?,What therapies should we start right away, and how often should they happen?,Is surgery recommended, and if so, when is the best time to consider it?,What should we watch for as our child grows — are there complications that can develop over time?,Are there any clinical trials or research studies we could participate in?,What support services or patient organizations can help our family?
Common questions about MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
What is MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome?
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome is a rare genetic condition that affects the muscles and joints. It is caused by changes (mutations) in both copies of the MYBPC1 gene, which provides instructions for making a protein called slow skeletal myosin-binding protein C. This protein plays an important role in how muscle fibers are organized and how muscles contract. When this protein does not work properly, muscles develop abnormally, leading to joint problems that begin before birth. The most noticeable feature of this condition is arthrogry
How is MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome inherited?
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome typically begin?
Typical onset of MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome is neonatal. Age of onset can vary across affected individuals.