Living with Megalencephalic leukoencephalopathy with subcortical cysts
A progressive brain condition with a large head from infancy, along with movement problems.
Understanding Megalencephalic leukoencephalopathy with subcortical cysts
People usually have an enlarged brain (megalencephaly) and a larger head size from birth or the first year. The brain's white matter (nerve fibers covered with myelin) is abnormal and swollen, and over time can waste away. Cysts can form in the brain. Movement problems include stiffness and poor coordination. Walking ability varies greatly. Minor head injury can worsen movement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large head size (macrocephaly)
- Muscle stiffness (spasticity)
- Poor coordination (ataxia) and unsteady walk
- Seizures
- Cysts in the brain
- Gradual loss of motor skills
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Leukodystrophy 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 Hunter's Hope Foundation 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
Changes in genes (also called variants) cause this condition. GARD lists both autosomal recessive and autosomal dominant inheritance.
Also known as: infantile leukoencephalopathy and megalencephaly; leukoencephalopathy with swelling and cysts; megalencephalic leukodystrophy; megalencephalic leukoencephalopathy with subcortical cysts type 1; megalencephaly-cystic leukodystrophy syndrome; mlc
Patient organizations
- Hunter's Hope FoundationMegalencephalic leukoencephalopathy with subcortical cysts · United States
- The Stop ALD FoundationMegalencephalic leukoencephalopathy with subcortical cysts · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Megalencephalic leukoencephalopathy with subcortical cysts.
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