Overview
Intellectual disability-epilepsy-extrapyramidal syndrome is an extremely rare genetic neurological condition that affects brain development and function. The disease is characterized by three main features: intellectual disability (difficulty with learning, reasoning, and problem-solving), epilepsy (recurrent seizures), and extrapyramidal symptoms (movement problems such as involuntary movements, muscle stiffness, tremors, or difficulty coordinating movements). These extrapyramidal symptoms arise from problems in the parts of the brain that help control and coordinate movement. Symptoms typically begin in early life, and affected children may show delayed developmental milestones such as sitting, walking, and speaking later than expected. Seizures can vary in type and severity, and the movement difficulties may worsen over time. Some individuals may also experience behavioral challenges. There is currently no cure for this condition. Treatment focuses on managing symptoms. Anti-seizure medications are used to control epilepsy, while medications and therapies may help with movement problems. Physical therapy, occupational therapy, and speech therapy play important roles in supporting development and daily functioning. Early intervention with a multidisciplinary team of specialists is important to optimize quality of life. Because this is such a rare condition, management is often individualized based on each person's specific symptoms and needs.
Key symptoms:
Intellectual disability (difficulty learning and understanding)Seizures (epilepsy)Involuntary movementsMuscle stiffness or rigidityTremorsDifficulty coordinating movementsDelayed speech developmentDelayed motor milestones (sitting, walking)Abnormal postures (dystonia)Behavioral difficultiesPoor balanceDifficulty with fine motor skillsSlow or abnormal gait
Clinical phenotype terms (30)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Intellectual disability-epilepsy-extrapyramidal syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-epilepsy-extrapyramidal syndrome.
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 Intellectual disability-epilepsy-extrapyramidal syndrome.
Community
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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 specific genetic mutation is causing my child's condition, and what does it mean for their future?,What seizure medications are best suited for my child, and what side effects should I watch for?,Are there any treatments available for the movement problems?,What therapies (physical, occupational, speech) should we start, and how often?,Should other family members be tested for this genetic change?,Are there any clinical trials or research studies we could participate in?,What emergency plan should we have in place for prolonged seizures?
Common questions about Intellectual disability-epilepsy-extrapyramidal syndrome
What is Intellectual disability-epilepsy-extrapyramidal syndrome?
Intellectual disability-epilepsy-extrapyramidal syndrome is an extremely rare genetic neurological condition that affects brain development and function. The disease is characterized by three main features: intellectual disability (difficulty with learning, reasoning, and problem-solving), epilepsy (recurrent seizures), and extrapyramidal symptoms (movement problems such as involuntary movements, muscle stiffness, tremors, or difficulty coordinating movements). These extrapyramidal symptoms arise from problems in the parts of the brain that help control and coordinate movement. Symptoms typic
How is Intellectual disability-epilepsy-extrapyramidal syndrome inherited?
Intellectual disability-epilepsy-extrapyramidal syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-epilepsy-extrapyramidal syndrome typically begin?
Typical onset of Intellectual disability-epilepsy-extrapyramidal syndrome is infantile. Age of onset can vary across affected individuals.