Canavan disease is an inherited disorder that destroys the myelin sheath, the white matter that insulates nerve cells in the brain. It causes overall muscle weakness and developmental delay leading to severe mental disability. Symptoms usually begin at 3 to 5 months of age with poor muscle tone (hypotonia), which causes problems turning over, controlling head movements, and sitting up. The infant's head also becomes rapidly larger. Over time, people with the condition become unable to swallow and develop sleep disturbances, seizures, and blindness. Most people with Canavan disease die in childhood, although some have lived into their teens and early twenties.
Canavan disease is caused by a deficiency in an enzyme called aspartoacylase. This enzyme breaks down a material called N-acetyl-L-aspartic acid (NAA) in the brain. Without enough enzyme, the NAA builds up in the brain and destroys its white matter.
The prevalence of Canavan disease in the general population is unknown. Among people of Ashkenazi Jewish descent, the disease affects approximately 1 in 6,400 to 13,500 people, making 1 in every 40 to 58 Ashkenazi Jews a carrier.
At this time, there is no cure for Canavan disease. Treatment focuses on keeping the affected person comfortable with proper nutrition and hydration and controlling seizures with medication.
Most people with Canavan disease die in childhood, although some survive into their teens or early twenties. In childhood they become severely mentally disabled and lose muscle control.
A non-profit organization dedicated to increasing awareness of Canavan disease and encouraging prevention through genetic testing.
450 West End Avenue #10C
New York, NY 10024
Phone: (212) 873-4640
Secondary Phone: (877) 4-CANAVAN
A foundation, started by parents of a child with Canavan disease, which advocates for and funds gene therapy for the disease.
88 Route 37
New Fairfield, CT 06812
Phone: (203) 746-2436
Explanations of an extensive number of genetic diseases written for everyday people by the U.S. government's National Institutes of Health.