Schilder disease

Last reviewed

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ORPHA:59298OMIM:272100G37.0
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27Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Schilder disease, also known as Schilder's diffuse myelinoclastic sclerosis or myelinoclastic diffuse sclerosis, is a rare brain disorder that destroys the protective coating around nerve fibers called myelin. This coating acts like insulation on electrical wires — when it breaks down, nerve signals cannot travel properly through the brain. The disease mainly affects children and teenagers, though it can occasionally appear in adults. It is considered a rare form of multiple sclerosis (MS) or a closely related condition. The damage to myelin typically occurs in large patches in the white matter of the brain — the deep tissue that connects different brain regions. This widespread damage can cause a wide range of serious symptoms depending on which areas of the brain are affected. Common problems include vision loss, weakness on one or both sides of the body, difficulty speaking, seizures, and changes in thinking or behavior. Treatment mainly focuses on managing symptoms and slowing the disease. Corticosteroids like prednisone are often used during flare-ups and can lead to significant improvement in some patients. Because Schilder disease is so rare and can look like other brain diseases, getting the right diagnosis can take time. Ongoing care from a team of specialists is important for the best outcomes.

Also known as:

Key symptoms:

Vision problems or sudden vision loss in one or both eyesWeakness or paralysis on one or both sides of the bodyDifficulty speaking or understanding speechSeizuresHeadachesProblems with balance and coordinationChanges in behavior or personalityMemory and thinking difficultiesHearing lossDifficulty swallowingBladder or bowel control problemsFatigue and low energy

Clinical phenotype terms (19)— hover any for plain English
CNS demyelinationHP:0007305Ankle clonusHP:0011448CSF pleocytosisHP:0012229
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Schilder disease.

View clinical trials →

No actively recruiting trials found for Schilder disease at this time.

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

Search ClinicalTrials.gov ↗Join the Schilder disease community →

Specialists

Showing 25 of 27View all specialists →
PM
Paul Orchard, MD
MINNEAPOLIS, MN
Specialist
PI on 15 active trials
FM
Florian Eichler, MD
BOSTON, MA
Specialist
PI on 4 active trials
PM
Paul Szabolcs, MD
Pittsburgh, Pennsylvania
Specialist

Rare Disease Specialist

PI on 7 active trials
WM
Wolfgang Köhler, MD
Specialist
PI on 2 active trials1 Schilder disease publication
AM
Adeline Vanderver, MD
Los Angeles, California
Specialist

Rare Disease Specialist

PI on 4 active trials1 Schilder disease publication
MM
Mitchell S Cairo, MD
HAWTHORNE, NY
Specialist
PI on 12 active trials
CP
Carlos Casasnovas, MD, PhD
Specialist
PI on 1 active trial
KP
Kenneth Setchell, PhD
Specialist
PI on 1 active trial
VM
Vinay Penematsa, MD
Specialist
PI on 4 active trials
JM
Jakub M Antczak, MD
Krakow, Lesser Poland Voivodeship
Specialist

Rare Disease Specialist

PI on 3 active trials
AP
Adrian Thrasher, MD, PhD
Specialist
PI on 2 active trials
PP
Patrick Aubourg, MD, PhD
Specialist
PI on 3 active trials
BM
Biljana Horn, MD
SAN FRANCISCO, CA
Specialist
PI on 2 active trials
VF
Vinod K Prasad, MD, FRCP
DURHAM, NC
Specialist
PI on 1 active trial
YM
Yilong Wang, MD,PhD
Specialist
PI on 3 active trials
KP
Kathleen M Zackowski, Ph.D.
Specialist
PI on 1 active trial
JM
Jorn-Sven Kuhl, MD
Specialist
PI on 1 active trial
JM
Jakob Sieker, MD.
BOSTON, MA
Specialist
PI on 1 active trial
SM
Satiro de Oliveira, MD
Specialist
PI on 1 active trial
NM
Nicholas Smith, MD
Specialist
PI on 1 active trial

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 Schilder disease.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Schilder diseaseForum →

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Latest news about Schilder disease

No recent news articles for Schilder disease.

Follow this condition to be notified when news becomes available.

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.How confident are you in the diagnosis of Schilder disease, and what other conditions have been ruled out?,What is the recommended steroid treatment plan, and what side effects should we watch for?,How will we monitor for relapses, and what symptoms should prompt an emergency visit?,Should we consider disease-modifying therapies used for multiple sclerosis, and if so, which ones?,What therapies — physical, occupational, or speech — does my child need right now?,What school accommodations or support services should we put in place?,Are there any specialists or centers with specific experience in Schilder disease that you would recommend?

Common questions about Schilder disease

What is Schilder disease?

Schilder disease, also known as Schilder's diffuse myelinoclastic sclerosis or myelinoclastic diffuse sclerosis, is a rare brain disorder that destroys the protective coating around nerve fibers called myelin. This coating acts like insulation on electrical wires — when it breaks down, nerve signals cannot travel properly through the brain. The disease mainly affects children and teenagers, though it can occasionally appear in adults. It is considered a rare form of multiple sclerosis (MS) or a closely related condition. The damage to myelin typically occurs in large patches in the white matt

How is Schilder disease inherited?

Schilder disease follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Schilder disease typically begin?

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

Which specialists treat Schilder disease?

25 specialists and care centers treating Schilder disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.