Pelizaeus-Merzbacher disease

info · Genetic · ICD-10: E75.27

A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.

Signs and symptoms

Inability to walk
Hypotonia
Ataxia
Thin corpus callosum
Depression
CNS hypomyelination
Generalized dystonia
Intellectual disability
Vertical supranuclear gaze palsy
Writer's cramp

Also known as: HLD1; Leukodystrophy, sudanophilic; PMD; Pelizaeus Merzbacher brain sclerosis; Pelizaeus-Merzbacher brain sclerosis