Overview
Lethal neonatal spasticity-epileptic encephalopathy syndrome is an extremely rare and severe brain disorder that appears at birth or within the first days of life. It is characterized by a combination of severe muscle stiffness (spasticity), uncontrollable seizures (epileptic encephalopathy), and profound brain dysfunction. Affected newborns typically show very poor muscle tone or extreme stiffness, frequent and difficult-to-control seizures, and little to no normal brain activity. The condition is caused by genetic changes that disrupt normal brain development and function, particularly affecting how nerve cells communicate with each other. Because this condition is described as lethal, affected infants generally have a very poor prognosis, with most not surviving beyond the newborn period or early infancy. The seizures in this condition tend to be resistant to standard anti-seizure medications, making treatment extremely challenging. Care is primarily supportive, focusing on comfort, seizure management, and respiratory support. There are currently no curative treatments available. Families affected by this condition benefit greatly from genetic counseling and palliative care support to help navigate this devastating diagnosis.
Also known as:
Key symptoms:
Severe muscle stiffness (spasticity)Frequent and hard-to-control seizuresSevere brain dysfunction from birthPoor or absent voluntary movementsDifficulty breathing or need for breathing supportFeeding difficultiesLack of normal newborn reflexesLittle or no response to surroundingsAbnormal brain wave patterns on EEGFailure to reach any developmental milestonesLow muscle tone alternating with stiffnessIrritability or excessive crying
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 Lethal neonatal spasticity-epileptic encephalopathy syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Lethal neonatal spasticity-epileptic encephalopathy 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 Lethal neonatal spasticity-epileptic encephalopathy 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 change is causing my baby's condition?,Are there any treatments that might help control the seizures?,What is the expected course of this condition for my baby?,Can we involve a palliative care team to help with comfort and support?,What does this diagnosis mean for future pregnancies, and should we pursue genetic counseling?,Are there any clinical trials or research studies we could participate in?,What support services are available for our family during this time?
Common questions about Lethal neonatal spasticity-epileptic encephalopathy syndrome
What is Lethal neonatal spasticity-epileptic encephalopathy syndrome?
Lethal neonatal spasticity-epileptic encephalopathy syndrome is an extremely rare and severe brain disorder that appears at birth or within the first days of life. It is characterized by a combination of severe muscle stiffness (spasticity), uncontrollable seizures (epileptic encephalopathy), and profound brain dysfunction. Affected newborns typically show very poor muscle tone or extreme stiffness, frequent and difficult-to-control seizures, and little to no normal brain activity. The condition is caused by genetic changes that disrupt normal brain development and function, particularly affec
How is Lethal neonatal spasticity-epileptic encephalopathy syndrome inherited?
Lethal neonatal spasticity-epileptic encephalopathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lethal neonatal spasticity-epileptic encephalopathy syndrome typically begin?
Typical onset of Lethal neonatal spasticity-epileptic encephalopathy syndrome is neonatal. Age of onset can vary across affected individuals.