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 PLP1gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males. Treatment requires a multidisciplinary team approach, with members dictated by the presenting symptoms.
Last updated: 3/23/2016
How common is Pelizaeus-Merzbacher disease (PMD)?
It is estimated that between 1 in 200,000 to 1 in 500,000 people have PMD in the United states.
Last updated: 9/8/2016
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