Overview
Duane anomaly-myopathy-scoliosis syndrome is a very rare condition that affects the eyes, muscles, and spine together. It is sometimes referred to by its Orphanet code ORPHA:50817. The condition combines three main problems: Duane anomaly (a specific eye movement disorder), myopathy (muscle weakness), and scoliosis (sideways curving of the spine). In Duane anomaly, one or both eyes cannot move normally to the side, and the eye may retract (pull back) into the socket when trying to look inward. This happens because the nerve that normally controls certain eye muscles did not develop correctly before birth. The muscle weakness (myopathy) can affect muscles throughout the body, making everyday activities like walking, climbing stairs, or lifting objects harder than usual. The spinal curve (scoliosis) can develop during childhood or adolescence and may worsen over time if not monitored and treated. Together, these three features can significantly affect a person's quality of life. Because this syndrome is extremely rare, treatment is focused on managing each individual problem rather than curing the underlying cause. Eye surgery or prism glasses may help with the eye movement issue. Physical therapy, bracing, or spinal surgery may be used for scoliosis. Muscle weakness is managed with physical and occupational therapy. A team of specialists is usually needed to provide the best care.
Also known as:
Key symptoms:
Limited eye movement — one or both eyes cannot look fully to the sideEye pulling back into the socket when looking inward (eye retraction)Narrowing of the eye opening when looking inwardGeneral muscle weakness affecting the arms, legs, or trunkDifficulty walking or climbing stairs due to weak musclesSideways curvature of the spine (scoliosis)Possible back pain or uneven shoulder or hip height from spinal curveFatigue with physical activityPossible double vision or head tilting to compensate for eye problems
Variable
Can be inherited in different ways depending on the underlying gene
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Duane anomaly-myopathy-scoliosis syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Duane anomaly-myopathy-scoliosis syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Duane anomaly-myopathy-scoliosis 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 Duane anomaly-myopathy-scoliosis syndrome.
Community
No community posts yet. Be the first to share your experience with Duane anomaly-myopathy-scoliosis syndrome.
Start the conversation →Latest news about Duane anomaly-myopathy-scoliosis syndrome
No recent news articles for Duane anomaly-myopathy-scoliosis syndrome.
Follow this condition to be notified when news becomes available.
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 genetic tests should we do to try to find the cause of this syndrome?,How often should my child's spine be monitored, and at what point would surgery be recommended?,What physical therapy program is best for managing the muscle weakness?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to seek emergency care related to the scoliosis?,How will this condition affect my child's ability to attend school and participate in activities?,Should other family members be evaluated or tested for related conditions?
Common questions about Duane anomaly-myopathy-scoliosis syndrome
What is Duane anomaly-myopathy-scoliosis syndrome?
Duane anomaly-myopathy-scoliosis syndrome is a very rare condition that affects the eyes, muscles, and spine together. It is sometimes referred to by its Orphanet code ORPHA:50817. The condition combines three main problems: Duane anomaly (a specific eye movement disorder), myopathy (muscle weakness), and scoliosis (sideways curving of the spine). In Duane anomaly, one or both eyes cannot move normally to the side, and the eye may retract (pull back) into the socket when trying to look inward. This happens because the nerve that normally controls certain eye muscles did not develop correctly b
At what age does Duane anomaly-myopathy-scoliosis syndrome typically begin?
Typical onset of Duane anomaly-myopathy-scoliosis syndrome is childhood. Age of onset can vary across affected individuals.