What is Pelizaeus-Merzbacher Disease?
It is a type of leukodystrophy, a condition affecting the myelin or the white matter of brain. It is caused by a mutation in the gene controlling the production of proteolipid protein – 1 (PLP1), which is a myelin protein.
Are there different types of Pelizaeus-Merzbacher disease?
Depending upon the type of gene abnormality, severity of disease may differ ranging from severe brain defects to stiffness and difficulty walking.
How is Perlizaeus-Merzbacher disease diagnosed?
In proper clinical settings, an MRI of brain can suggest this diagnosis. A gene test is available for diagnosis.
Is there a treatment for Pelizaeus-Merzbacher disease?
There is no cure. Treatment is symptomatic.
Where can I find more information about Pelizaeus-Merzbacher Disease?
American Academy of Pediatric Neurology Section
United Leukodystrophy Foundation
National Organization for Rare Disorders
Genetic and Rare Diseases Information Center
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