Pelizaeus-Merzbacher disease

Overview

Type of disease: Rare conditions

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. The condition primarily affects males. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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