Equipping People To Make Sense Of What They Are Told
Canavan Disease - One of the most common cerebral degenerative diseases of infancy,
a gene-linked, neurological birth disorder in which the white matter of the brain
degenerates into spongy tissue riddled with microscopic fluid-filled spaces.
Canavan disease is caused by mutations in the gene for an enzyme called aspartoacylase.
Symptoms of Canavan disease appear in early infancy and progress rapidly.
Symptoms may include:
Mental retardation.
Loss of previously acquired motor skills.
Feeding difficulties.
Abnormal muscle tone (floppiness or stiffness).
Abnormally large, poorly controlled head.
Children are characteristically quiet and apathetic.
Although Canavan disease may occur in any ethnic group, it is more frequent amongst:
Ashkenazi Jews from Eastern Poland, Lithuania, and Western Russia.
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.
Treatment
Canavan disease causes progressive brain atrophy. There is no cure, nor is there
a standard course of treatment. Currently any treatment is symptomatic and supportive.
Prognosis
The prognosis for Canavan disease is poor. Death usually occurs before age 4, although
some may survive into their teens and twenties.
