Canavan Disease

Below you will find more information about Canavan Disease from Medigest. If you believe that you are suffering from any of the symptoms of Canavan Disease it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Canavan Disease and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Canavan Disease comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Canavan Disease (also know as ACY2 deficiency) is a rare genetic defect that characterizes a spongy deterioration of the brain and spinal cord. The symptoms that indicate the spread of the disease develop at infancy, usually beginning with progressive mental decline and rapid loss of head control, balance and muscle tone. Affected infants have an abnormally large head caused by swelling. This disease is caused by an abnormality found in the ASPA gene that stops the cells from producing aspartocytase, an enzyme important in brain development.

Discuss Canavan Disease in our forums

Discuss Canavan Disease with other members of Medigest in our forums.