Canavan Disease?

• What is Canavan disease?
• What causes Canavan disease?
• What are the symptoms of Canavan disease?
• Is there any treatment for Canavan disease?
• What is the prognosis for Canavan disease?
• What research is being done on Canavan disease?
• For more information

What is Canavan disease?

Canavan disease, one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.

What causes Canavan disease?

Canavan disease is one of a group of genetic disorders known as the leukodystrophies. These diseases cause imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers in the brain. Myelin, which lends its color to the "white matter" of the brain, is a complex substance made up of at least ten different chemicals. Each of the leukodystrophies affects one (and only one) of these substances. Canavan disease is caused by mutations in the gene for an enzyme called aspartoacylase.

What are the symptoms of Canavan disease?

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.

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