Living with Agenesis of the corpus callosum with peripheral neuropathy
An inherited condition (Andermann syndrome) affecting nerves for movement and sensation, with a missing or underdeveloped link between brain halves.
Understanding Agenesis of the corpus callosum with peripheral neuropathy
The nerves, especially those that control movement, develop poorly. Most people have a missing or malformed corpus callosum, the tissue connecting the two halves of the brain. People often have weak reflexes, low muscle tone, muscle wasting, and slowly worsening weakness and loss of sensation. Most begin walking at ages 3 to 4 and lose this ability by their teen years. Most also have intellectual disability, from mild to severe.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing corpus callosum in the brain
- Developmental delay
- Intellectual disability
- Seizures
- Small head size (microcephaly)
- Weakness on one side of the body
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.
- 3Consider genetic testing
Changes in SLC12A6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 National Organization of Disorders of the Corpus Callosum
- 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
Changes in the SLC12A6 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: accpn; agenesis of corpus callosum with peripheral neuropathy; agenesis of corpus callosum with polyneuropathy; andermann syndrome; charlevoix disease; corpus callosum agenesis-neuronopathy syndrome
Patient organizations
- National Organization of Disorders of the Corpus CallosumAgenesis of the corpus callosum with peripheral neuropathy · United States
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Perspectives from people navigating life with Agenesis of the corpus callosum with peripheral neuropathy.
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