OBSOLETE: Infantile axonal neuropathy

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ORPHA:2679
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Overview

Infantile axonal neuropathy is a rare nerve disorder that affects babies and very young children. The term 'infantile axonal neuropathy' is now considered an outdated or umbrella label (marked as 'obsolete' in medical databases), meaning it was once used to describe a group of conditions where the axons — the long, wire-like parts of nerve cells that carry signals — are damaged in infancy. This damage disrupts communication between the brain, spinal cord, muscles, and sensory organs. Because this is an obsolete classification, it likely encompasses several distinct conditions that are now better defined, such as Giant Axonal Neuropathy (GAN) or other hereditary axonal neuropathies. Children with axonal neuropathy in infancy typically show signs of muscle weakness, poor muscle tone (floppiness), difficulty feeding, and delayed motor milestones like sitting or walking. Sensation may also be affected, meaning the child may not feel pain, heat, or touch normally. In some forms, the brain and other organs can also be involved. There is currently no cure for most forms of infantile axonal neuropathy. Treatment focuses on managing symptoms, supporting development through physical and occupational therapy, and preventing complications. Because this label is obsolete, families are encouraged to seek a more specific genetic diagnosis, which can guide prognosis and open doors to targeted research or clinical trials.

Key symptoms:

Muscle weakness, especially in the arms and legsLow muscle tone (floppy baby appearance)Difficulty feeding or swallowingDelayed motor milestones such as not sitting or walking on timeReduced or absent reflexesNumbness or reduced ability to feel pain, heat, or touchUnsteady or clumsy movementsFoot deformities such as high arches or flat feetBreathing difficulties in severe casesPossible intellectual or developmental delays depending on the specific condition

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Infantile axonal neuropathy.

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No actively recruiting trials found for OBSOLETE: Infantile axonal neuropathy at this time.

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No specialists are currently listed for OBSOLETE: Infantile axonal neuropathy.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Infantile axonal neuropathy.

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Community

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Caregiver Resources

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Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What specific type of axonal neuropathy does my child have, and should we pursue further genetic testing to get a more precise diagnosis?,What therapies are most important to start right away, and how often should my child receive them?,Are there any clinical trials or research studies my child might be eligible for?,What signs should prompt me to seek emergency care?,How is my child's breathing likely to be affected over time, and when should we consider respiratory support?,What support services or early intervention programs are available for my child?,Are other family members at risk, and should we consider genetic counseling?

Common questions about OBSOLETE: Infantile axonal neuropathy

What is OBSOLETE: Infantile axonal neuropathy?

Infantile axonal neuropathy is a rare nerve disorder that affects babies and very young children. The term 'infantile axonal neuropathy' is now considered an outdated or umbrella label (marked as 'obsolete' in medical databases), meaning it was once used to describe a group of conditions where the axons — the long, wire-like parts of nerve cells that carry signals — are damaged in infancy. This damage disrupts communication between the brain, spinal cord, muscles, and sensory organs. Because this is an obsolete classification, it likely encompasses several distinct conditions that are now bett

At what age does OBSOLETE: Infantile axonal neuropathy typically begin?

Typical onset of OBSOLETE: Infantile axonal neuropathy is infantile. Age of onset can vary across affected individuals.