Canavan Disease (cont.)

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 (floppiness or stiffness), and
  
  
• an abnormally large, poorly controlled head.

Paralysis, blindness, or hearing loss may also occur. Children are characteristically quiet and apathetic. Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians.

Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase. Both parents must be carriers of the defective gene in order to have an affected child. When both parents are found to carry the Canavan gene mutation, there is a one in four (25%) chance with each pregnancy that the child will be affected with Canavan disease.

Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive.

Source: MedicineNet.com
http://www.medicinenet.com/canavan_disease/article.htm