Catalog
Pelizaeus-Merzbacher disease
Link to WHO Definition
Pelizaeus-Merzbacher disease – http://id.who.int/icd/entity/1313582105
Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterised 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.