Living with Leukoencephalopathy with mild cerebellar ataxia and white matter edema
An inherited brain condition with balance and coordination problems and headaches, that usually doesn't worsen much over time.
Understanding Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Neurological problems may appear anytime from childhood to adulthood and generally do not worsen much. Most people have trouble with coordination and balance but can walk without support, and many have frequent headaches. Children often have learning disabilities, while adults often have vision problems. Affected males are unable to father children.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance when walking (gait ataxia)
- Poor coordination of the limbs (limb ataxia)
- Headache
- Tremor during movement
- Damage to the optic nerve
- Loss of part of the field of vision
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 CLCN2 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
It is caused by changes in the CLCN2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: brain white matter edema; clcn2 (chloride voltage-gated channel 2) related leukoencephalopathy; clcn2-related leukoencephalopathy; leukoencephalopathy with ataxia; leukoencephalopathy with white matter edema; lkpat
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 Leukoencephalopathy with mild cerebellar ataxia and white matter edema.
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