Overview
Muscle-eye-brain disease (MEB disease) is a rare genetic condition that affects the muscles, eyes, and brain all at the same time. It belongs to a group of conditions called congenital muscular dystrophies, which means the muscle problems are present from birth. MEB disease is caused by changes (mutations) in genes that help add sugar molecules to proteins — a process called glycosylation. When this process does not work correctly, it affects how muscles, the brain, and the eyes develop. Babies born with MEB disease typically have very weak muscles (called hypotonia or 'floppy baby'), structural changes in the brain that can be seen on brain scans, and serious eye problems including glaucoma, nearsightedness, and abnormal retinas. Most children with MEB disease have significant intellectual disability and developmental delays. Seizures are also very common. There is currently no cure for MEB disease. Treatment focuses on managing symptoms, improving quality of life, and supporting development. This includes physical therapy, occupational therapy, seizure medications, and eye care. Early intervention and a strong team of specialists can make a meaningful difference in a child's comfort and development.
Key symptoms:
Very weak muscle tone from birth (floppy baby)Intellectual disability and significant developmental delaysSeizures or epilepsySevere nearsightedness (myopia)Glaucoma (high pressure in the eyes)Abnormal retina developmentStructural brain abnormalities visible on MRI (such as lissencephaly or cobblestone brain)Difficulty or inability to walk independentlyLimited or absent speechFeeding difficulties in infancyEnlarged head size (macrocephaly) in some casesAbnormal eye movements or crossed eyes (strabismus)Elevated muscle enzyme levels in blood (creatine kinase)
Clinical phenotype terms (23)— hover any for plain English
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 Muscle-eye-brain disease.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Muscle-eye-brain disease at this time.
New trials open frequently. Follow this disease to get notified.
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 Muscle-eye-brain disease.
Community
No community posts yet. Be the first to share your experience with Muscle-eye-brain disease.
Start the conversation →Latest news about Muscle-eye-brain disease
No recent news articles for Muscle-eye-brain disease.
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.Which specific gene mutation does my child have, and how does that affect their prognosis?,What therapies should we start right away, and how often should they happen?,What seizure medications are recommended, and what are the warning signs that seizures are not well controlled?,How should we monitor my child's breathing, and when might breathing support be needed?,Are there any clinical trials or research studies we should consider enrolling in?,What specialists should be part of my child's care team, and how often should we see each one?,What support services and early intervention programs are available in our area?
Common questions about Muscle-eye-brain disease
What is Muscle-eye-brain disease?
Muscle-eye-brain disease (MEB disease) is a rare genetic condition that affects the muscles, eyes, and brain all at the same time. It belongs to a group of conditions called congenital muscular dystrophies, which means the muscle problems are present from birth. MEB disease is caused by changes (mutations) in genes that help add sugar molecules to proteins — a process called glycosylation. When this process does not work correctly, it affects how muscles, the brain, and the eyes develop. Babies born with MEB disease typically have very weak muscles (called hypotonia or 'floppy baby'), structu
How is Muscle-eye-brain disease inherited?
Muscle-eye-brain disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Muscle-eye-brain disease typically begin?
Typical onset of Muscle-eye-brain disease is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Muscle-eye-brain disease?
25 specialists and care centers treating Muscle-eye-brain disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.