Odontoleukodystrophy

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ORPHA:77295OMIM:607694E75.2
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8Treatment centers

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Overview

Odontoleukodystrophy is a very rare inherited disease that affects two main parts of the body: the teeth and the white matter of the brain. 'Odonto' refers to teeth, and 'leukodystrophy' refers to damage to the white matter — the tissue in the brain that helps nerve signals travel quickly and correctly. This condition is sometimes called odonto-leukodystrophy or dental leukodystrophy in medical literature. People with this condition typically develop problems with their teeth, such as abnormal tooth development or early tooth loss, alongside a gradual breakdown of the brain's white matter. The white matter damage can lead to a range of neurological symptoms, including problems with movement, coordination, thinking, and behavior. Symptoms usually begin in childhood or early adulthood and tend to get worse over time. Because this disease is so rare, treatment options are very limited. There is currently no cure. Care focuses on managing symptoms, supporting brain function as long as possible, and helping patients maintain quality of life. A team of specialists — including neurologists, dentists, and geneticists — is usually needed to provide the best care.

Also known as:

Key symptoms:

Abnormal tooth development or structureEarly loss of teethProgressive difficulty with walking and coordinationMuscle stiffness or spasticityDecline in thinking and memory over timeSpeech difficultiesBehavioral or personality changesSeizuresVision problemsDifficulty swallowing

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Odontoleukodystrophy.

View clinical trials →

No actively recruiting trials found for Odontoleukodystrophy at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Odontoleukodystrophy community →

No specialists are currently listed for Odontoleukodystrophy.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Odontoleukodystrophy.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Odontoleukodystrophy

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What genetic tests should we do to confirm the diagnosis and identify the specific gene involved?,How quickly do you expect the disease to progress, and what signs should we watch for?,What specialists should be part of our care team, and how often should we see each one?,Are there any clinical trials or research studies we might be eligible to join?,What therapies — physical, speech, or occupational — would you recommend starting now?,How should we manage dental care given the tooth problems associated with this condition?,What emergency situations should we be prepared for, and what should we do if they happen?

Common questions about Odontoleukodystrophy

What is Odontoleukodystrophy?

Odontoleukodystrophy is a very rare inherited disease that affects two main parts of the body: the teeth and the white matter of the brain. 'Odonto' refers to teeth, and 'leukodystrophy' refers to damage to the white matter — the tissue in the brain that helps nerve signals travel quickly and correctly. This condition is sometimes called odonto-leukodystrophy or dental leukodystrophy in medical literature. People with this condition typically develop problems with their teeth, such as abnormal tooth development or early tooth loss, alongside a gradual breakdown of the brain's white matter. Th

How is Odontoleukodystrophy inherited?

Odontoleukodystrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Odontoleukodystrophy typically begin?

Typical onset of Odontoleukodystrophy is childhood. Age of onset can vary across affected individuals.