Overview
Isolated amyelia is an extremely rare and severe birth defect of the central nervous system in which the spinal cord fails to develop. The name comes from 'a-' meaning without and 'myelia' referring to the spinal cord. In this condition, the spinal cord is completely absent, which means the brain cannot send or receive signals to and from the body below the head. Because the spinal cord is essential for movement, sensation, and control of organs throughout the body, this condition is incompatible with life in nearly all cases. Babies with isolated amyelia typically show no movement or sensation in the trunk and limbs, have no ability to breathe on their own, and have no bowel or bladder function. The condition is usually detected during pregnancy through prenatal ultrasound or MRI, or at birth. It is classified under neural tube defects, which are problems that occur very early in embryonic development when the structures that form the brain and spinal cord do not close properly. Because this condition is so severe, there is no curative treatment available. Management focuses on supportive and palliative care. Isolated amyelia is distinguished from other spinal cord malformations by the complete absence of the spinal cord without other major brain abnormalities.
Key symptoms:
Complete lack of movement in the arms, legs, and trunkNo sensation or feeling below the headInability to breathe without assistanceNo bowel or bladder controlSevere muscle weakness or absence of muscle tone (floppiness)Absence of reflexes in the limbsInability to swallow or feed normallyFailure to thrive
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Isolated amyelia.
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Specialists
View all specialists →No specialists are currently listed for Isolated amyelia.
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 Isolated amyelia.
Community
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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.How certain is the diagnosis, and are there any additional tests that could confirm it?,What are our options for care during pregnancy and after birth?,Can you explain what palliative care would look like for our baby?,Is there a known cause, and does this affect our chances in future pregnancies?,Should we see a genetic counselor to discuss recurrence risk?,What support services are available for our family, including grief counseling?,Are there any research studies or registries we could participate in?
Common questions about Isolated amyelia
What is Isolated amyelia?
Isolated amyelia is an extremely rare and severe birth defect of the central nervous system in which the spinal cord fails to develop. The name comes from 'a-' meaning without and 'myelia' referring to the spinal cord. In this condition, the spinal cord is completely absent, which means the brain cannot send or receive signals to and from the body below the head. Because the spinal cord is essential for movement, sensation, and control of organs throughout the body, this condition is incompatible with life in nearly all cases. Babies with isolated amyelia typically show no movement or sensatio
How is Isolated amyelia inherited?
Isolated amyelia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Isolated amyelia typically begin?
Typical onset of Isolated amyelia is neonatal. Age of onset can vary across affected individuals.