label: Pelizaeus-Merzbacher Disease
label_lc: pelizaeus-merzbacher disease
description: "An X-linked inherited disorder caused by mutations in the PLP1 gene on chromosome X.  The signs and symptoms are the result of defective myelination of the central nervous system and include nystagmus, hypotonia, tremor, ataxia, spastic quadriparesis, and diffuse leukoencephalopathy."