Andermann Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Andermann Syndrome?
A neurologist usually manages the condition, and a geneticist often helps confirm the diagnosis and guide families. Therapists may join the care team as needs change. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Andermann syndrome is a rare genetic condition that runs in families. It affects the nerves linking the spinal cord to the muscles, as well as the structure of the brain. Because both nerves and brain are involved, people usually have muscle weakness, loss of feeling in the hands and feet, and differences in thinking and learning. It is seen most often in people with French Canadian ancestry.
Symptoms
Symptoms usually begin in early childhood. Common signs include weak muscles and reduced sensation in the hands and feet. Many children walk late, and some lose the ability to walk as they get older. Other features can include a curved spine, high arched feet, intellectual disability, and seizures.
Causes and who gets it
Andermann syndrome is caused by changes, called mutations, in a gene known as SLC12A6. When the gene does not work, nerves in the arms and legs slowly break down. The condition is autosomal recessive, meaning a child must receive one changed copy from each parent, while carriers usually have no symptoms. It is more common in parts of Quebec.
How doctors diagnose it
Doctors start with a physical exam and family history. A nerve conduction study, which measures how fast signals travel along the nerves, often shows slow or weak signals. Brain imaging, usually an MRI, can show the corpus callosum is missing or partly formed. Genetic testing of the SLC12A6 gene confirms the diagnosis.
Treatment
There is no cure. Treatment eases symptoms and helps people stay active and independent. Care often includes physical and occupational therapy, and braces, walkers, or wheelchairs. Seizures are treated with medicines, and regular checkups track changes over time.
When to see a doctor
Talk to a doctor if a child is late to walk, seems weak or clumsy, or has reduced feeling in the hands or feet. Seizures also need medical attention. Adults with a family history may want to ask about genetic testing before pregnancy.
How a direct primary care or concierge doctor fits in
A direct primary care doctor is paid a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can be a steady home base, watching overall health, managing medicines, and coordinating therapy, but they cannot replace a neurologist.
Common questions
Is Andermann syndrome life threatening?
The condition can shorten life in some cases, but people live into adulthood, and the course differs from person to person. A neurologist can give a clearer picture based on the individual situation.
Can it be prevented?
There is no way to prevent the condition once a pregnancy begins. Couples with a family history can meet with a genetic counselor, who explains inherited risks and offers testing options.
Will my children have it?
A person with Andermann syndrome passes one changed gene copy to every child. The child would only have the condition if the other parent also carries a changed copy of the same gene.
Is it the same as muscular dystrophy?
No. Muscular dystrophy is a disease of the muscles themselves. Andermann syndrome affects the nerves that control the muscles, along with a structure in the brain.
Sources
- MedlinePlus Genetics - Andermann syndrome
- NIH Genetic and Rare Diseases Information Center - Agenesis of the corpus callosum with peripheral neuropathy
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
