Canavan Disease

Canavan Disease is caused by mutations in ASPA gene. The ASPA makes an enzyme called aspartoacylase, this enzyme normally breaks down build up of NAA, because of the deficiency it destroys myelin. Canavan is an autosomal recessive, meaning both parents are carriers; carriers have a 1 in 4 chance of having an affected child. Canavan Disease occurs in about 1 in 6,400 - 13,500 and is usually connected with the Jewish heritage.

Canavan Disease usually begins in early infancy, by 3-5 months there are problems with development, delay in motor skills i.e. sitting, rolling over. Infants typically have weak muscle tone (hyptonia), abnormal posture, increased head size (Macrocephay) and mental retardation. Also feeding and swallowing difficulties, seizures and sleep disturbances.

At present there is no known cure or treatment for this disorder, only symptomatic and supportive can me offered.