What is Canavan disease?
Canavan disease is a rare inherited neurological disorder and a leukodystrophy. It affects myelin, the protective covering around nerve fibers, so messages in the brain do not travel as they should.
It is caused by changes in the ASPA gene and is inherited in an autosomal recessive pattern: both parents typically carry a non-working copy of the gene without having the disease themselves.
Features and progression vary. The more common infantile form may include developmental delay, low muscle tone, increasing head size, feeding or swallowing difficulties, and seizures. Milder forms may involve speech or motor delays.
There is no cure yet. Care focuses on comfort and support. Researchers are working on gene therapy, and you can read more on our Treatments page.
Learn more from trusted sources
Summarized from MedlinePlus Genetics and the National Organization for Rare Disorders (NORD). This is not medical advice.