Overview
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is an extremely rare genetic condition that affects the brain and nervous system starting in early childhood. The disease causes progressive damage to nerve cells, leading to a combination of serious neurological problems. Children with this condition typically develop loss of vision (blindness), difficulty coordinating movements (ataxia), and stiffness in the muscles (spasticity). Over time, the brain continues to deteriorate, which leads to worsening of these symptoms along with intellectual decline and loss of previously acquired skills. The condition usually begins in infancy or early childhood, and symptoms tend to get worse over time. Affected children may initially appear to develop normally but then begin to lose abilities such as walking, talking, and seeing. The neurodegeneration — meaning the progressive loss of nerve cells — is the central feature of this disease and drives most of the symptoms. Because this syndrome is so rare, there are currently no specific treatments that can stop or reverse the disease. Management focuses on supportive care, including physical therapy to help with movement difficulties, medications to manage spasticity, and vision support services. Research into the underlying genetic causes continues, but treatment options remain very limited at this time.
Also known as:
Key symptoms:
Progressive vision loss leading to blindnessDifficulty coordinating movements (ataxia)Muscle stiffness and spasticityLoss of previously learned skills (developmental regression)Intellectual declineDifficulty walking or inability to walkSpeech difficulties or loss of speechSeizuresInvoluntary eye movements (nystagmus)Difficulty swallowingOptic nerve damage (optic atrophy)Weakness in the arms and legsPoor balance
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 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Early-onset progressive neurodegeneration-blindness-ataxia-spasticity 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 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome.
Community
No community posts yet. Be the first to share your experience with Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome.
Start the conversation →Latest news about Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
No recent news articles for Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome.
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.What is the expected rate of progression for my child's condition?,Are there any clinical trials or experimental treatments we should consider?,What therapies can help maintain my child's abilities for as long as possible?,How should we manage seizures if they occur, and when should we go to the emergency room?,What feeding and nutritional support will my child need as the disease progresses?,Should other family members be tested for the genetic mutation?,What palliative care and support services are available for our family?
Common questions about Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
What is Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome?
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is an extremely rare genetic condition that affects the brain and nervous system starting in early childhood. The disease causes progressive damage to nerve cells, leading to a combination of serious neurological problems. Children with this condition typically develop loss of vision (blindness), difficulty coordinating movements (ataxia), and stiffness in the muscles (spasticity). Over time, the brain continues to deteriorate, which leads to worsening of these symptoms along with intellectual decline and loss of pr
How is Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome inherited?
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome typically begin?
Typical onset of Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is infantile. Age of onset can vary across affected individuals.