ACCPN (Agenesis of Corpus Callosum with Peripheral Neuropathy)

ACCPN, also known as Andermann Syndrome, is a rare autosomal recessive genetic disorder characterized by the absence or underdevelopment of the corpus callosum (the structure connecting the two hemispheres of the brain) combined with progressive sensorimotor neuropathy affecting the peripheral nerves.

This condition was first described in the French-Canadian population of Quebec, particularly in the Saguenay-Lac-Saint-Jean region, where it occurs more frequently due to founder effects. However, it has been identified in other populations as well.

Symptoms typically begin in infancy or early childhood and include delayed motor development, progressive weakness and wasting of muscles (particularly in the limbs), sensory abnormalities, intellectual disability, and distinctive facial features. Many affected individuals develop scoliosis and may lose the ability to walk independently as the disease progresses.

The condition is caused by mutations in the SLC12A6 gene, which provides instructions for making a protein involved in nerve cell function. Diagnosis is made through genetic testing, MRI imaging of the brain, and nerve conduction studies.

NutraHacker examines the following gene related to ACCPN:

• SLC12A6

For more information about your own genetic profile as related to ACCPN, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.