Canavan disease facts*
*Canavan disease facts medical author: Charles Patrick Davis, MD, PhD
- Canavan disease is a gene-linked neurological disorder that results in brain tissue degeneration.
- The cause of the disease is a genetic disorder that causes oligodendrocytes to remain immature and then die, thereby not completing the synthesis of myelin sheaths. The mutation is in the gene that synthesizes an enzyme called aspartoacyclase.
- Symptoms of Canavan disease usually appear during the first 3 to 6 months of life and, unfortunately, progress rapidly. Symptoms include lack of motor development, abnormal muscle tone, difficulty feeding, and an abnormally large head that has poor muscle control. Some children develop paralysis, blindness, and/or hearing loss. These children are usually not active and appear apathetic.
- Unfortunately, there is no cure or standard treatment for this disease. Treatment is symptomatic and supportive.
- Death usually occurs before age 10 although few children may survive into the teens and early 20s. The prognosis is poor.
- Research is ongoing. The gene for the disease has been located and there are animal models for this disease. Gene transfer to the brain, metabolic therapy to provide a missing metabolite (acetate), and enzyme therapy have yielded some encouraging results.
What is Canavan disease?
Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.