What is Canavan Disease?

Canavan disease is a fatal genetic neurological disorder that deteriorates the white matter in the brain. This white matter (or myelin) insulates nerve cells in the brain and spinal cord, much like the insulation around a wire, to ensure that nerve impulses are transmitted throughout the body.

In children with Canavan disease, a defective gene prevents the production of an enzyme responsible for breaking down an acid called NAA. An over accumulation of NAA in the brain is thought to drastically hinder healthy white matter formation, making the afflicted children incapable of holding up their heads, sitting or even speaking.

The life expectancy of the typical Canavan child is between three and ten years with gradual deterioration of sight, ability to swallow and other senses.

The Canavan gene has been identified allowing at risk couples to test for this deadly disease. Both parents must be carriers in order to have a child with Canavan (25% risk or 1 in 4).

While prevalent in the Ashkenazi Jewish population, Canavan has recently been identified in people of other ethnic backgrounds as well. Expectant couples concerned about risk of Canavan should seek genetic counseling.