Canavan disease


What are the first steps after an initial diagnosis of Canavan disease?

After a diagnosis of Canavan disease is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in the disorder. Supports groups such as the the Canavan Foundation, the Canavan Research Foundation, and the Canavan Research Illinois. The United Leukodystrophy Foundation, and the National Tay-Sachs and Allied Diseases Association can sometimes provide referrals to physicians or medical centers with experience in treating Canavan disease.

People diagnosed with Canavan disease will go through a series of tests to see how far along the disease is. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder.

Matalon R, Michals-Matalon K. GeneReviews website. Updated August 11, 2011. Retrieved April 29, 2016, from

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