Overview
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome is an extremely rare genetic condition that affects the nervous system starting in infancy. This disease damages the peripheral nerves (the nerves that carry signals between the brain, spinal cord, and the rest of the body), leading to both motor problems (difficulty moving muscles) and sensory problems (difficulty feeling touch, temperature, or pain). It also causes optic atrophy, which means the nerve connecting the eye to the brain gradually deteriorates, leading to vision loss. Over time, the condition causes progressive neurodegeneration, meaning the brain and nervous system continue to lose function. Babies with this condition typically show early signs such as weak muscle tone (floppiness), difficulty feeding, and delayed motor milestones like sitting or walking. As the disease progresses, children may experience worsening muscle weakness, loss of sensation in the hands and feet, vision problems, and developmental regression — meaning they may lose skills they had previously gained. Some children may also develop breathing difficulties and intellectual disability. This syndrome is caused by mutations in the MFN2 gene, which plays a critical role in how mitochondria (the energy-producing structures inside cells) function and fuse together. Because there is currently no cure, treatment focuses on managing symptoms and supporting quality of life. This may include physical therapy, occupational therapy, assistive devices for mobility, and regular monitoring by a team of specialists. The condition is classified under ICD-10 code G60.8 (other hereditary and idiopathic neuropathies).
Key symptoms:
Muscle weakness starting in infancyLow muscle tone (floppiness)Loss of sensation in hands and feetVision loss due to optic nerve damageDelayed motor milestonesLoss of previously learned skills (developmental regression)Difficulty walking or inability to walkMuscle wasting (thin, weak muscles)Difficulty feedingBreathing problemsReduced or absent reflexesIntellectual disabilityPoor balance and coordinationFoot deformities such as high arches or curled toes
Clinical phenotype terms (26)— hover any for plain English
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 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative 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 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome.
Community
No community posts yet. Be the first to share your experience with Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome.
Start the conversation →Latest news about Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
No recent news articles for Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative 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?,What therapies should we start right away to help maintain function?,How often should my child have eye exams and neurological evaluations?,Are there any clinical trials or experimental treatments we should consider?,What signs of breathing problems should I watch for at home?,Should other family members be tested for carrier status?,What support services and resources are available for our family?
Common questions about Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
What is Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome?
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome is an extremely rare genetic condition that affects the nervous system starting in infancy. This disease damages the peripheral nerves (the nerves that carry signals between the brain, spinal cord, and the rest of the body), leading to both motor problems (difficulty moving muscles) and sensory problems (difficulty feeling touch, temperature, or pain). It also causes optic atrophy, which means the nerve connecting the eye to the brain gradually deteriorates, leading to vision loss. Over time, the condi
How is Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome inherited?
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome typically begin?
Typical onset of Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome is infantile. Age of onset can vary across affected individuals.