What is Leukodystrophy?

Leukodystrophy is an inherited white matter disorder that affects the myelin, or white matter, of the brain." In Greek," leuko" means "white" and dystrophy translates as "imperfect growth." So leukodystrophies are a family of disorders affecting the brain's development. 

 

Most people with leukodystrophy have a broken or faulty gene that makes it impossible for their body to produce an enzyme or protein crucial for keeping the brain healthy.

 

There are 50 forms of leukodystrophy, and all forms of the disease affect 1 in 7400 live births.  A significant number of patients may be diagnosed with suspected or unspecified leukodystrophies. In such cases, doctors determine a patient might have  a form of leukodystrophy that current diagnostic tests have not identified or named. 

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