Living with Muscle-eye-brain disease with bilateral multicystic leucodystrophy
A rare inherited condition affecting muscles, eyes, and brain, with delayed development and changes in the brain's white matter.
Understanding Muscle-eye-brain disease with bilateral multicystic leucodystrophy
It is a form of congenital muscular dystrophy (inherited muscle weakness from early life) with brain and eye differences. People have intellectual disability, muscle weakness, a larger head size, and widespread cyst-like changes in the brain's white matter on both sides. GARD lists onset in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very low muscle tone in infants (floppy infant)
- Delayed sitting and walking
- Severe delay in development
- Little or no speech
- Poor head control
- Severe intellectual disability
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in DAG1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: 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 Cure CMD - Congenital Muscular Dystrophy 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
GARD lists changes in the DAG1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: meb disease with bilateral multicystic leucodystrophy; muscle eye brain disease with bilateral multicystic leucodystrophy; muscle eye brain disease with bilateral multicystic leukodystrophy
Patient organizations
- Cure CMD - Congenital Muscular DystrophyMuscle-eye-brain disease with bilateral multicystic leucodystrophy · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Muscle-eye-brain disease with bilateral multicystic leucodystrophy.
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