Living with Cystic leukoencephalopathy without megalencephaly
A genetic brain condition starting in infancy that affects movement, speech, and learning.
Understanding Cystic leukoencephalopathy without megalencephaly
Also called RNAse T2-deficient leukoencephalopathy, it causes neurological problems that show in infancy and generally do not get worse over time. Most people have severe intellectual disability, muscle stiffness, and delays in motor skills. Most do not develop speech. Some have a "doll-like face."
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development overall
- Delayed speech and language
- Muscle stiffness (spasticity)
- Seizures
- Hearing loss from inner ear changes
- Involuntary eye movements (nystagmus)
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.
- 3Consider genetic testing
Changes in RNASET2 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
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 United Leukodystrophy Foundation
- 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 the RNASET2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: clwm
Patient organizations
- United Leukodystrophy FoundationLeukodystrophies · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cystic leukoencephalopathy without megalencephaly.
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