Living with Muscle eye brain disease
A rare inherited muscle condition that also affects the eyes and brain, starting before or soon after birth.
Understanding Muscle eye brain disease
MEB is one of the congenital muscular dystrophies (inherited muscle conditions present from early life). People have low muscle tone, severe nearsightedness, glaucoma, and brain differences. Developmental delay, intellectual disability, extra fluid in the brain (hydrocephalus), and distinct facial features can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Severe nearsightedness (myopia)
- Glaucoma
- Extra fluid in the brain (hydrocephalus)
- Seizures
- Delayed development and learning problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Muscular Dystrophy Association and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Muscular Dystrophy Association, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
MEB is caused by changes in the POMGNT1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: meb; meb syndrome; muscle-eye-brain disease; muscle-eye-brain syndrome; santavuori congenital muscular dystrophy
Patient organizations
- Muscular Dystrophy AssociationMuscle eye brain disease · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Muscle eye brain disease.
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