Andermann syndrome

What Is Andermann Syndrome?

Andermann syndrome, also called agenesis of corpus callosum with peripheral neuropathy, is an inherited disease that causes progressive damage to the nervous system. Andermann syndrome is caused by mutations in the SLC12A6 gene. Its symptoms appear early in life and include intellectual and developmental disabilities, delayed 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 are progressive and will worsen over time.

Motor and sensory skills are impaired from infancy and individuals with the condition also share certain physical features including a small head, long asymmetric face, small upper jaw, large ears, and a large distance between the eyes.

Two-thirds of individuals with the condition are missing the corpus callosum, a structure that connects the right and left sides of the brain, while the remaining individuals have a partially formed corpus callosum. Individuals with the disease learn to walk later than normal, often around the age of three, and progressively lose the ability to walk in their early teens. They may also experience seizures.

In their twenties, individuals with Andermann syndrome often develop hallucinations and psychosis. The disease is typically fatal before the age of 40.

How Common Is Andermann Syndrome?

Andermann syndrome is seen almost exclusively in individuals from the Saguenay–Lac-Saint-Jean region of Québec, Canada where it affects 1 in 2,117 births. Andermann syndrome has only been reported in other populations on rare occasions, and the worldwide prevalence is unknown.

How Is Andermann Syndrome Treated?

There is no cure for Andermann syndrome, and there are 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.

What Is the Prognosis for an Individual with Andermann Syndrome?

Andermann syndrome is a progressive disease that impairs a patient's motor functions and causes intellectual and developmental disabilities. All individuals with the disease will eventually be wheelchair bound. Individuals with Andermann syndrome typically develop severe neurological problems in their twenties and the disease is usually fatal before the age of 40.