Canavan Disease

Name of Disorder: Canavan disease, Canavan-Van Bogaert-Bertrand disease

Cause: Canavan disease is caused by mutations in the ASPA gene. A persons who inherits one gene mutation in the ASPA gene is a carrier of the disease and isn't expected to have health problems. An individual that inherits two genes is expected to be affected by the disease. 

Origin of the Name: The origin of the name comes form a female pathologist named Myrtelle Canavan. She discovered the disease in 1931. 

Symptoms and Signs: Symptoms usually show up within the first 3-6 months after birth and then progress rapidly. Symptoms include lack of motor development, abnormal muscle tone (weakness or stiffness), and an abnormally large, poorly controlled head, paralysis, blindness, or hearing loss may also occur. 

Cures or Treatment: At this point there are no cures for Canavan disease and very little treatment. Treatment involves comforting hydrating, proper nurturing, and controlling seizures with medication. 

Research or Support Groups: There are many support and research groups for Canavan disease. Many of the groups are founded by families that have a loved one with Canavan disease and do their best to fight against the disease.