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). 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.
There is a 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.
- From http://www.ninds.nih.gov/health_and_medical/disorders/canavn_doc.htm
All Wikipedia text
is available under the
terms of the GNU Free Documentation License