Canavan disease is a progressive, fatal neurological disorder that commences in infancy. An inherited genetic abnormality is the cause for it. The abnormality is lack of an essential enzyme which induces impairment of the white matter (myelin) in the brain, thereby forbidding the proper transmission of nerve signals.
Symptoms of Canavan disease differ, but the common ones include rapidly increasing head circumference, lack of head control, reduced visual responsiveness and abnormal muscle tone such as stiffness or floppiness. Children with Canavan disease cannot perform functions like crawling, walking, sitting or talking. Eventually, they may suffer seizures, become paralyzed, developmentally delayed or blind and have trouble swallowing. Deafness may also be a result Canavan disease.
An affected infant of three to nine months may show signs and symptoms. Many children die before age 10, although few children may survive into the teens and early 20s. The prognosis is poor.
Unfortunately, there is no cure or standard treatment for this disease. Treatment is symptomatic and supportive and involves handling the symptoms.
Canavan disease is found most often in persons of Ashkenazi (German and Eastern European) Jewish ancestry. According to estimates, 1 in 40 Ashkenazi Jews carries the Canavan gene. It is also found in other ethnic groups. Successful ongoing screening programs in the Jewish population, has made it possible that most of the children born with Canavan disease today have no known Jewish heritage.
Currently, a lot of research is happening regarding the condition. The gene for the disease has been located and there are animal models for this disease. Gene transfer to the brain, metabolic therapy to provide a missing metabolite (acetate), and enzyme therapy have yielded some encouraging results.
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