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Genetic and Rare Diseases Information Center (GARD)

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Pelizaeus-Merzbacher disease

Other Names for this Disease
  • Pelizaeus Merzbacher brain sclerosis
  • Pelizaeus Merzbacher disease
  • PMD
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Your Question

How rare is Pelizaeus-Merzbacher disease?

Our Answer

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What is Pelizaeus-Merzbacher disease?

Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern.[1] The condition primarily affects males.[1][2]
Last updated: 7/20/2009

How rare is Pelizaerus-Merzbacher disease?

There is estimated to be only 1 person in 200,000 to 500,000 with Pelizaerus-Merzbacher disease in the United states.[3]
Last updated: 6/5/2009