Overview
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare and severe genetic brain disorder. It is also known as WOREE syndrome (WWOX-Related Epileptic Encephalopathy) or sometimes referred to as WWOX-related developmental and epileptic encephalopathy. This condition is caused by harmful changes (mutations) in both copies of the WWOX gene, which plays an important role in brain development and function. Children with this condition typically show signs very early in life, often in the first weeks or months. The hallmark features include severe epilepsy (seizures) that is very difficult to control with medication, profound intellectual disability, and problems with coordination and movement (cerebellar ataxia). Many affected children also have very limited or absent speech, difficulty feeding, vision problems, and slow growth. Some children may also have structural brain abnormalities visible on MRI scans. Unfortunately, there is currently no cure for this condition. Treatment focuses on managing symptoms, particularly controlling seizures with anti-epileptic medications, though seizures in WWOX deficiency are often resistant to standard treatments. Supportive therapies such as physical therapy, occupational therapy, and nutritional support are important parts of care. Research into potential therapies, including gene therapy approaches, is ongoing but still in early stages. The condition is considered very severe, and many affected children require full-time care and medical support throughout their lives.
Also known as:
Key symptoms:
Severe seizures that are hard to controlProfound intellectual disabilityProblems with balance and coordination (ataxia)Very limited or no speechDifficulty feeding or swallowingSlow growth and failure to thriveLow muscle tone (floppiness)Vision problems or blindnessDelayed or absent motor milestonesAbnormal movements or spasticitySmall head size (microcephaly)Brain abnormalities on MRILimited ability to interact with surroundings
Clinical phenotype terms (8)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 type of WWOX mutation does my child have, and does it affect the expected severity?,What seizure medications do you recommend, and what are the side effects we should watch for?,Should we consider the ketogenic diet or other non-drug approaches for seizure control?,What therapies (physical, occupational, speech) should we start, and how often?,Does my child need a feeding tube, and when should we consider one?,Are there any clinical trials or research studies we could participate in?,What is the plan if seizures become prolonged or uncontrollable at home?
Common questions about Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
What is Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency?
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare and severe genetic brain disorder. It is also known as WOREE syndrome (WWOX-Related Epileptic Encephalopathy) or sometimes referred to as WWOX-related developmental and epileptic encephalopathy. This condition is caused by harmful changes (mutations) in both copies of the WWOX gene, which plays an important role in brain development and function. Children with this condition typically show signs very early in life, often in the first weeks or months. The hallmark features include s
How is Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency inherited?
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency typically begin?
Typical onset of Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is neonatal. Age of onset can vary across affected individuals.