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Start free with EleplanMuscle-eye-brain disease with bilateral multicystic leucodystrophy
ORPHA:370997Disease
Also called MEB disease with bilateral multicystic leucodystrophy
What it is
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
19- Abnormal brainstem morphology
- Abnormality of the pons
- Absent speech
- Agyria
- Cerebellar cyst
- Cerebellar vermis hypoplasia
- Delayed ability to sit
- Delayed ability to walk
- EEG with focal spike waves
- Elevated circulating creatine kinase concentration
- Floppy infant
- Hypoglycosylation of alpha-dystroglycan
- Hypoplasia of the corpus callosum
- Intellectual disability, severe
- Leukodystrophy
- Polymicrogyria
- Poor head control
- Severe global developmental delay
- Ventriculomegaly
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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