What is Canavan disease?
Canavan disease is a type of leukodystrophy. The leukodystrophies are a group of rare, progressive, metabolic, genetic disorders that can affect the brain, spinal cord and often the nerves outside the central nervous system (peripheral nerves). Canavan disease is caused by a mutation in the ASPA gene, which affect metabolism of N-acetylaspartic acid. It is an autosomal recessive condition.
Who is affected by Canavan disease?
Most cases are infants, which is its more severe form. A milder form affects juveniles.
What are clinical features of Canavan disease?
Child is born normal, at few months of age develops motor and cognitive problems, macrocephaly, hypotonia, sleep disorders, and seizures. Prognosis for this age group is not good and patients do not survive more than a few years. Milder cases presenting later in life may have milder symptoms and may survive with normal lifespan.
Is there a treatment for Canavan disease?
No specific treatment is available. Patients are treated for symptoms.
Where can I find more information about Canavan disease?
American Academy of Pediatric Neurology Section
United Leukodystrophy Foundation
National Organization for Rare Disorders
Genetic and Rare Diseases Information Center
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