Living with Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
A rare nervous system disease starting in infancy with nerve damage, vision loss, seizures, and feeding trouble.
Understanding Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
It includes nerve damage affecting movement and feeling, vision loss from the optic nerve, thinking difficulties, swallowing and speech problems, seizures, and early low muscle tone with feeding trouble. Brain scans show varying shrinkage.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infancy (floppy infant)
- No speech
- Acid reflux
- Muscle tightness (dystonia)
- Foot joint contractures
- Brain shrinkage (cerebral atrophy)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Foundation for Peripheral Neuropathy and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Also known as: anoac; anoac (axonal neuropathy, optic atrophy, cognitive deficit) syndrome; axonal neuropathy-optic atrophy-cognitive deficit syndrome; axonal neuropathy, optic atrophy, cognitive deficit syndrome; infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome.
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