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Pelizaeus-Merzbacher disease

Disease definition

Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms).

ORPHA:702

  • Synonym(s):
    • Diffuse familial brain sclerosis
    • PMD
    • Pelizaeus-Merzbacher brain sclerosis
    • Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked recessive or X-linked dominant 
  • Age of onset: All ages
  • ICD-10: E75.2
  • OMIM: 213900  312080
  • UMLS: C0205711
  • MeSH: D020371
  • GARD: 4265
  • MedDRA: 10067610

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