Living with Alexander disease
A rare nervous system disorder in which the protective covering of nerve fibers (myelin) breaks down, most often starting before age 2.
Understanding Alexander disease
Myelin is the fatty covering that insulates nerve fibers. Most cases begin before age 2 (the infantile form). Later-onset forms start in childhood (juvenile) or adulthood. Rarely, a neonatal form occurs in the first month of life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Larger-than-usual brain and head (infantile form)
- Seizures
- Stiff arms and legs (spasticity)
- Speech problems
- Trouble swallowing
- Trouble with balance and coordination (ataxia)
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 GFAP 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 Elise’s Corner 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 the GFAP gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: alexander's disease; alxdrd; axd; axd - alexander disease; fibrinoid leukodystrophy
Patient organizations
- Elise’s CornerAlexander disease · End Alexander Disease Foundation
- Hunter's Hope FoundationAlexander disease · United States
- Leukodystrophy Resource & Research OrganisationAlexander disease · United Leukodystrophy Foundation
You are more than your diagnosis
Perspectives from people navigating life with Alexander disease.
Explore research for Alexander disease
Explore actively recruiting Alexander disease studies with HealthSpark.
Find actively recruiting studies for Alexander disease with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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