What is Canavan Disease?

Canavan disease is a neurodegenerative disorder. It is one of the most common degenerative cerebral disorders that occurs in children when they are infants. Canavan disease is estimated to occur in about 1 out of every 40 people, specifically among people of Ashkenazi Jewish descent. People who are carriers of Canavan disease often do not experience any no symptoms of the disease and may not even be aware that Canavan disease exists in their family. However, if two parents are carriers of the disease, there is a 25 percent chance that they will have a child who is affected by Canavan disease.

Canavan disease is categorized under leukodystrophy, which is a group of inherited neurological disorders that affect the growth of the myelin sheath. The disease is caused by a mutation of a gene which controls the production of an enzyme called aspartoacylase. Aspartoacylase causes an accumulation of N-acetylaspartic acid in the brain, which causes the myelin to become damaged. The myelin is important because it surrounds nerve fibers in the brain and spinal cord and protects it while making sure the nerve impulses are functioning properly.

The symptoms of Canavan disease often appear within about three to six months after being born. The symptoms often progress very quickly. The symptoms include an abnormally large and poorly controlled head, a lack of motor development, feeding difficulties, and weakness or stiffness in the muscles. Children may also experience paralysis, blindness, or hearing loss.

Canavan disease may occur in any ethnic population. However, it is most common among people of Ashkenazi Jewish descent. People of this descent are usually from eastern Poland, Lithuania, and western Russia. It is also common among Saudi Arabians. The most common risk factor for Canavan disease is having Jewish ancestry, or a family history of any children having had Canavan disease.

In order to diagnose Canavan disease, your doctor can do a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase. In order for a child to be affected by Canavan disease, both parents must be carriers of the disease.

Unfortunately, there is no cure for Canavan disease. There is also no standard form of treatment. And eventually, it causes progressive brain atrophy. The disease is often treated by treating the symptoms of the disease. The prognosis for Canavan disease is also poor. Children often die of Canavan disease before age ten. In some cases, children may survive into their teens and twenties.