Living with POLR3-related leukodystrophy
An inherited condition that affects the brain's white matter and other body parts, causing problems with movement and learning.
Understanding POLR3-related leukodystrophy
Leukodystrophies affect the nervous system's white matter. In this one, the body makes too little myelin, the fatty coating that insulates nerve fibers. People usually have mild to severe intellectual disability that gradually worsens, and trouble coordinating movement (ataxia) that begins in childhood. Walking skills are often delayed, and some people eventually use a walker or wheelchair. Tremor of the arms and hands may occur.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Intellectual disability
- Poor coordination and balance (ataxia)
- Delayed walking skills
- Unsteady walk with feet wide apart
- Shaking of the arms and hands (tremor)
- Too little myelin in the brain (hypomyelination)
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 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
- 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 YaYa 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 changes in genes cause this condition but doesn't name a gene in this record.
Also known as: pol iii-related leukodystrophies; pol iii-related leukodystrophy; ribonucleic acid polymerase iii-related leukodystrophy; rna polymerase iii-related leukodystrophy
Patient organizations
- YaYa FoundationPOLR3-related leukodystrophy · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with POLR3-related leukodystrophy.
Explore research for POLR3-related leukodystrophy
Explore actively recruiting POLR3-related leukodystrophy studies with HealthSpark.
Find actively recruiting studies for POLR3-related leukodystrophy 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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