Overview
Muscle-eye-brain disease with bilateral multicystic leucodystrophy is an extremely rare and severe genetic condition that affects the muscles, eyes, and brain. It belongs to a group of disorders known as dystroglycanopathies, which are caused by problems in how certain proteins are processed in the body. These proteins are important for the normal development and function of muscles and the brain. In this condition, babies are typically born with significant muscle weakness (a type of congenital muscular dystrophy), serious eye abnormalities that can cause vision problems or blindness, and severe brain malformations. The brain shows a specific pattern of damage called bilateral multicystic leucodystrophy, meaning there are multiple cyst-like areas in the white matter on both sides of the brain. This leads to profound intellectual disability and developmental delays. Children with this condition usually have very limited motor development and may never achieve independent sitting or walking. Seizures are common. Unfortunately, there is currently no cure for this disease. Treatment focuses on managing symptoms, providing supportive care, and improving quality of life through therapies such as physical therapy, seizure management, nutritional support, and vision care. The condition is life-limiting, and affected children require intensive medical and caregiving support throughout their lives.
Also known as:
Key symptoms:
Severe muscle weakness from birth (floppy baby)Poor or absent muscle toneSevere intellectual disabilityEye abnormalities such as severe nearsightedness or glaucomaVision loss or blindnessSeizures or epilepsyInability to sit, stand, or walk independentlyFeeding difficulties and poor weight gainAbnormal brain development visible on MRIMultiple cysts in the white matter of the brainDelayed or absent speechBreathing difficultiesJoint contractures (stiff joints)Hydrocephalus (fluid buildup in the brain)
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 with bilateral multicystic leucodystrophy.
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Specialists
View all specialists →No specialists are currently listed for Muscle-eye-brain disease with bilateral multicystic leucodystrophy.
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 with bilateral multicystic leucodystrophy.
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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 specific genetic mutation does my child have, and does it help predict the disease course?,What is the best plan for managing my child's seizures?,Should my child have a feeding tube, and when is the right time to consider one?,What therapies (physical, occupational) are most helpful at this stage?,Are there any clinical trials or research studies my child might be eligible for?,What palliative care and support services are available for our family?,What is the chance of having another child with this condition, and should we consider genetic counseling?
Common questions about Muscle-eye-brain disease with bilateral multicystic leucodystrophy
What is Muscle-eye-brain disease with bilateral multicystic leucodystrophy?
Muscle-eye-brain disease with bilateral multicystic leucodystrophy is an extremely rare and severe genetic condition that affects the muscles, eyes, and brain. It belongs to a group of disorders known as dystroglycanopathies, which are caused by problems in how certain proteins are processed in the body. These proteins are important for the normal development and function of muscles and the brain. In this condition, babies are typically born with significant muscle weakness (a type of congenital muscular dystrophy), serious eye abnormalities that can cause vision problems or blindness, and se
How is Muscle-eye-brain disease with bilateral multicystic leucodystrophy inherited?
Muscle-eye-brain disease with bilateral multicystic leucodystrophy 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 with bilateral multicystic leucodystrophy typically begin?
Typical onset of Muscle-eye-brain disease with bilateral multicystic leucodystrophy is neonatal. Age of onset can vary across affected individuals.