Overview
Arthrogryposis-anterior horn cell disease syndrome is a rare condition that combines two main problems: arthrogryposis and damage to the anterior horn cells of the spinal cord. Arthrogryposis means that a baby is born with multiple joints that are stiff and fixed in abnormal positions — this happens because the muscles and tendons around those joints did not develop or move normally before birth. The anterior horn cells are special nerve cells in the spinal cord that send signals to muscles, telling them to move. When these cells are damaged or lost, the muscles they control become weak and may shrink over time. Babies born with this syndrome typically have very limited movement in their arms, legs, and sometimes other joints. The muscle weakness caused by the nerve cell damage makes it hard to move, sit, stand, or walk. Some children may also have breathing difficulties if the muscles that support breathing are affected. There is currently no cure for this condition. Treatment focuses on improving function and quality of life. This includes physical therapy, occupational therapy, splinting or casting of joints, and sometimes surgery to help correct joint positions. A team of specialists works together to support each child's development and manage symptoms over time.
Also known as:
Key symptoms:
Joints that are stiff and stuck in fixed positions at birthMuscle weakness, especially in the arms and legsReduced muscle bulk (muscles look smaller than normal)Limited range of motion in multiple jointsDifficulty moving limbsBreathing problems if chest muscles are affectedFeeding difficulties in newbornsCurved spine (scoliosis) in some casesClubfoot or other foot deformitiesAbnormal hand or wrist positions
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 Arthrogryposis-anterior horn cell disease syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Arthrogryposis-anterior horn cell disease 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 Arthrogryposis-anterior horn cell disease 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
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 is the likely cause of my child's condition, and should we pursue genetic testing?,How will we monitor for changes in muscle strength or breathing over time?,What therapies are most important to start right away, and how often should they happen?,Are there any clinical trials or research studies my child might be eligible for?,What signs should prompt us to seek emergency care?,How will this condition affect my child's development and ability to attend school?,Are there support groups or patient organizations that can connect us with other families?
Common questions about Arthrogryposis-anterior horn cell disease syndrome
What is Arthrogryposis-anterior horn cell disease syndrome?
Arthrogryposis-anterior horn cell disease syndrome is a rare condition that combines two main problems: arthrogryposis and damage to the anterior horn cells of the spinal cord. Arthrogryposis means that a baby is born with multiple joints that are stiff and fixed in abnormal positions — this happens because the muscles and tendons around those joints did not develop or move normally before birth. The anterior horn cells are special nerve cells in the spinal cord that send signals to muscles, telling them to move. When these cells are damaged or lost, the muscles they control become weak and ma
At what age does Arthrogryposis-anterior horn cell disease syndrome typically begin?
Typical onset of Arthrogryposis-anterior horn cell disease syndrome is neonatal. Age of onset can vary across affected individuals.