Overview
Congenital axonal neuropathy with encephalopathy is a very rare and serious brain and nerve disorder that is present from birth. It affects the axons — the long, wire-like parts of nerve cells that carry signals between the brain, spinal cord, and the rest of the body. When these axons do not work properly, signals cannot travel normally, leading to problems with movement, muscle tone, and brain development. The condition also involves encephalopathy, which means the brain itself is affected, leading to developmental delays and intellectual disability. Babies born with this condition often show signs very early in life, including weak muscle tone (called hypotonia), difficulty feeding, and limited movement. As the child grows, delays in reaching milestones like sitting, standing, or talking become more noticeable. Seizures and breathing difficulties may also occur. There is currently no cure for congenital axonal neuropathy with encephalopathy. Treatment focuses on managing symptoms, supporting development, and improving quality of life. This includes physical therapy, occupational therapy, speech therapy, anti-seizure medications, and nutritional support. A team of specialists is usually needed to care for affected individuals.
Key symptoms:
Very low muscle tone (floppy baby appearance)Severe intellectual disabilityDelayed or absent developmental milestonesSeizuresDifficulty feeding and swallowingBreathing problemsLittle or no voluntary movementAbnormal reflexes or absent reflexesBrain abnormalities visible on MRINerve damage affecting the whole body
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 Congenital axonal neuropathy with encephalopathy.
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Specialists
View all specialists →No specialists are currently listed for Congenital axonal neuropathy with encephalopathy.
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 Congenital axonal neuropathy with encephalopathy.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What genetic testing do you recommend to find the exact cause of my child's condition?,What specialists should be part of my child's care team, and how often should we see them?,What signs should prompt me to call for emergency help, and what should I do in a seizure emergency?,Are there any clinical trials or research studies that my child might be eligible for?,What therapies will help my child most, and what realistic goals can we set?,How should we plan for my child's long-term care and support needs?,Are there support groups or organizations that can help our family connect with others in similar situations?
Common questions about Congenital axonal neuropathy with encephalopathy
What is Congenital axonal neuropathy with encephalopathy?
Congenital axonal neuropathy with encephalopathy is a very rare and serious brain and nerve disorder that is present from birth. It affects the axons — the long, wire-like parts of nerve cells that carry signals between the brain, spinal cord, and the rest of the body. When these axons do not work properly, signals cannot travel normally, leading to problems with movement, muscle tone, and brain development. The condition also involves encephalopathy, which means the brain itself is affected, leading to developmental delays and intellectual disability. Babies born with this condition often sh
How is Congenital axonal neuropathy with encephalopathy inherited?
Congenital axonal neuropathy with encephalopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital axonal neuropathy with encephalopathy typically begin?
Typical onset of Congenital axonal neuropathy with encephalopathy is neonatal. Age of onset can vary across affected individuals.