Living with Progressive cavitating leukoencephalopathy
A rare genetic condition that affects the brain's white matter, with episodes of balance, speech, and seizure problems.
Understanding Progressive cavitating leukoencephalopathy
It usually starts in infancy or childhood. Episodes may include unsteady movements, speech trouble, seizures, and irritability. After the episodes, some people have steady decline, while others have times of faster change alternating with long stable periods.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features during episodes:
- Poor balance and coordination (ataxia)
- Slurred speech (dysarthria)
- Seizures
- Irritability
- Arching of the back and neck (opisthotonus)
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 NDUFV2 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
This condition is caused by changes in the NDUFV2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
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 Progressive cavitating leukoencephalopathy.
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