Living with Congenital axonal neuropathy with encephalopathy
A rare condition from birth with nerve damage, low muscle tone and weakness, plus brain involvement and developmental delay.
Understanding Congenital axonal neuropathy with encephalopathy
Babies have low muscle tone, weakness mostly in the hands and feet, trouble breathing and swallowing, and no reflexes. The brain is also involved, with a head that grows slowly, seizures and global developmental delay. Hearing, eye and bone differences can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these features:
- Low muscle tone (hypotonia)
- Weakness, mostly in the hands and feet
- Breathing and swallowing difficulties
- Seizures
- Global developmental delay
- Slow head growth (microcephaly)
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 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); 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 changes in genes cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
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 Congenital axonal neuropathy with encephalopathy.
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