Living with Odontoleukodystrophy
A rare condition affecting the brain, teeth, and hormones, with trouble with movement, balance, and coordination.
Understanding Odontoleukodystrophy
Nerves lack enough myelin, their protective covering, which can cause delayed development or lost skills and problems with movement, balance, and coordination. People usually have dental differences, such as delayed or missing teeth. Puberty may be delayed or absent due to low sex hormones. GARD lists infancy as the usual time of onset.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Too little myelin (hypomyelinating leukodystrophy)
- Delayed development or loss of skills
- Problems with movement, balance, and coordination
- Delayed or missing teeth
- Delayed or absent puberty
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 POLR3A 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 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
Changes in the POLR3A gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: dentoleukoencephalopathy
Patient organizations
- YaYa FoundationOdontoleukodystrophy · United States
- Hunter's Hope FoundationOdontoleukodystrophy · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Odontoleukodystrophy.
Explore research for Odontoleukodystrophy
Explore actively recruiting Odontoleukodystrophy studies with HealthSpark.
Find actively recruiting studies for Odontoleukodystrophy 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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