Canavan disease is a rare and fatal inherited disease that leads to the progressive degeneration of the brain and nervous system. Symptoms, which appear shortly after birth and worsen rapidly, typically include intellectual disabilities (formerly called mental retardation), loss of previously acquired muscle coordination, abnormal muscle tone, an abnormally large head, and poorly controlled head movement. Hearing loss, blindness, and paralysis may also occur.
Canavan disease is one of many disorders that are called leukodystrophies. These disorders are characterized by abnormal growth or development of the myelin sheath, the fatty substance that protects and insulates the nerve fibers in the brain and spinal cord. Myelin is made up of at least 10 different chemicals. Each of the leukodystrophies affects one of these substances.
Canavan disease may affect anyone, regardless of their race, ethnicity, or gender. However, it is most common among Ashkenazi Jewish individuals from eastern Poland, Lithuania, and western Russia. It is also common among Saudi Arabians. It is estimated to affect one out of 6,400-13,500 people of Ashkenazi Jewish heritage. The incidence is unknown in other populations.
There is currently no cure or specific treatment for Canavan disease. Instead, therapy focuses on reducing the severity of symptoms and making the patient as comfortable as possible. The condition ultimately leads to death, usually during infancy. Most patients die before they reach 18 months of age. However, some may live to be teenagers and even fewer live until they reach their 20s. Patients with Canavan disease require around-the-clock care and support.
ASP deficiency, ASPA deficiency, aspartoacylase, aspartoacylase deficiency, Canavan's leukodystrophy, Canavan-Van Bogaert-Bertrand disease, CD, myelin, myelin sheath, spongy degeneration of the brain, spongy degeneration of the central nervous system, spongy degeneration of the neuroaxis, Van Bogaert-Bertrand syndrome.