Living with Vanishing white matter disease
A progressive genetic condition that mainly affects the brain and spinal cord, usually starting in childhood.
Understanding Vanishing white matter disease
It damages white matter, the nerve fibers covered by myelin, a fatty layer that protects nerves. Most children show no signs at birth. Motor symptoms like stiff muscles and poor coordination usually start in early childhood. Milder forms may not appear until the teen years or adulthood, and some females have ovary problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle stiffness (spasticity)
- Poor coordination (ataxia)
- Seizures
- Irritability
- Vision nerve damage (optic atrophy)
- Ovary problems in some females
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
GARD says a child inherits a changed copy of a gene from each parent (autosomal recessive). It doesn't name the gene here.
Also known as: cach; cach (childhood ataxia with diffuse central nervous system hypomyelination) syndrome; cach syndrome; cach/vwm syndrome; childhood ataxia with central nervous system hypomyelination; childhood ataxia with central nervous system hypomyelination/vanishing white matter
Patient organizations
- Hunter's Hope FoundationVanishing white matter disease · United States
- The VWM Families FoundationVanishing white matter disease · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Vanishing white matter disease.
Explore research for Vanishing white matter disease
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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