Overview
Disorder of O-mannosylglycan synthesis is a group of rare genetic conditions that affect how the body builds certain sugar chains (called O-mannosylglycans) on proteins. These sugar chains are especially important for a protein called alpha-dystroglycan, which helps connect muscle cells to the surrounding tissue and plays a key role in brain development. When these sugar chains are not made properly, the protein cannot do its job, leading to a range of problems mainly affecting the muscles, brain, and eyes. This group of disorders is sometimes referred to as dystroglycanopathies. The severity can vary widely. In the most severe forms, babies are born with significant brain malformations (such as cobblestone lissencephaly), severe muscle weakness, and eye abnormalities. Milder forms may present later in childhood or even adulthood with progressive muscle weakness resembling limb-girdle muscular dystrophy, with little or no brain involvement. There is currently no cure for these conditions. Treatment focuses on managing symptoms, which may include physical therapy to maintain mobility, respiratory support if breathing muscles are affected, seizure medications if epilepsy develops, and surgical interventions for eye problems or orthopedic complications. A team of specialists is typically needed to provide comprehensive care. Research into gene therapy and other targeted treatments is ongoing but not yet available as standard care.
Key symptoms:
Muscle weakness, especially in the hips and shouldersLow muscle tone (floppy baby)Delayed motor milestones like sitting and walkingIntellectual disability or learning difficultiesSeizures or epilepsyEye abnormalities such as nearsightedness or retinal problemsBrain malformations visible on MRIDifficulty breathing due to weak respiratory musclesElevated creatine kinase levels in blood testsJoint stiffness or contracturesDifficulty swallowing or feeding problems in infancyScoliosis or curved spineHeart problems in some casesSpeech delaysProgressive loss of ability to walk
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Disorder of O-mannosylglycan synthesis.
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Specialists
View all specialists →No specialists are currently listed for Disorder of O-mannosylglycan synthesis.
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 Disorder of O-mannosylglycan synthesis.
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.Which specific gene is affected in my child, and what does that mean for the expected disease course?,How often should we have follow-up appointments with each specialist?,What signs of breathing problems should I watch for, and when should I seek emergency care?,Are there any clinical trials or experimental treatments available for this specific type?,What therapies (physical, occupational, speech) should we start now to get the best outcomes?,Should other family members be tested to see if they carry the gene mutation?,What resources or support groups are available for families dealing with this condition?
Common questions about Disorder of O-mannosylglycan synthesis
What is Disorder of O-mannosylglycan synthesis?
Disorder of O-mannosylglycan synthesis is a group of rare genetic conditions that affect how the body builds certain sugar chains (called O-mannosylglycans) on proteins. These sugar chains are especially important for a protein called alpha-dystroglycan, which helps connect muscle cells to the surrounding tissue and plays a key role in brain development. When these sugar chains are not made properly, the protein cannot do its job, leading to a range of problems mainly affecting the muscles, brain, and eyes. This group of disorders is sometimes referred to as dystroglycanopathies. The severity
How is Disorder of O-mannosylglycan synthesis inherited?
Disorder of O-mannosylglycan synthesis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.