Andermann syndrome, also called agenesis of corpus callosum with peripheral neuropathy, is an inherited disease causing progressive damage to the nervous system. Its symptoms appear early in life and include mental disability, a delay in motor skills, overall muscle weakness, curvature of the spine, and dysfunction in the nerves of the hands and feet resulting in numbness, pain, and muscle weakness. These symptoms will worsen over time.
The disease causes motor and sensory skills to be impaired from infancy. People with the disease also share certain physical traits including a small head, long asymmetric face, small upper jaw, large ears, and a large distance between the eyes.
Two-thirds of people with the disease are missing the corpus callosum, a structure which connects the right and left sides of the brain, while the remaining third have a partially-formed corpus callosum. People with the disease learn to walk later than normal, often around the age of 3, and progressively lose the ability to walk in their early teens. They may also experience seizures.
In their 20s, people with Andermann syndrome often develop hallucinations and psychosis. The disease is typically fatal before the age of 40.
The disease is seen almost exclusively in people from the Saguenay-Lac-St-Jean region of Québec, Canada.
According to one researcher, Andermann syndrome affects 1 in 2,117 births in the Saguenay-Lac-St-Jean region of Québec, Canada, making 1 in 23 people there a carrier of the disease. It is rarely seen in any other population.
There is no cure for Andermann syndrome and few effective treatments for its symptoms. Physical therapy may be useful to maintain movement as long as possible. Surgery may also be recommended to straighten the spine.
Andermann syndrome is a progressive disease which impairs a person’s motor functions and causes mental disability. All people with the disease will eventually be wheelchair bound. In their 20s, people with Andermann syndrome typically develop severe mental problems. The disease is usually fatal before the age of 40.
A website built by researchers at the University of Maine's College of Education and Human Development who study various diseases associated with problems of the corpus callosum, including Andermann syndrome.
5749 Merrill Hall Room 118
University of Maine Orono, ME 04469-5749
Phone: (207) 581-3119
A catalog of human genes and genetic disorders authored by staff at Johns Hopkins University and elsewhere and published by the National Institutes of Health's National Center for Biotechnology Information. Please note that this information is written in highly technical language.