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Revision as of 07:22, 7 January 2005 by Cprompt (talk | contribs) (Sizing and captioning the diagram)(diff) ← Previous revision | Latest revision (diff) | Newer revision → (diff)Canavan disease is a rare, inherited, neurological disorder characterized by spongy degeneration of the brain (in which the white matter is replaced by microscopic fluid-filled spaces).
Canavan disease is inhertied in an autosommal recessive fashion. Both parents must be carriers in order to have an affected child. If both parents are carriers, there is a 25% chance to have an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers.
It is caused by a deficiency of an enzyme called aspartoacylase. Canavan disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath of the nerve fibers in the brain. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator. Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or hearing loss may also occur. Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently. About 1/40 individuals of Eastern European (Ashkenazi) Jewish ancestry are carreirs.
There is no cure for Canavan disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive. The prognosis for Canavan disease is poor. Death usually occurs before age 10.
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