Description of the disease * EnglishPolish Pobierz sekcję do PDF 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). Disease data Classification Disease Synonyms Diffuse familial brain sclerosis PMD PMD Pelizaeus-Merzbacher brain sclerosis Sudanophilic leukodystrophy, Paelizeus-Merzbacher type ORPHA code 702 OMIM code 213900 ICD10 code E75.2 ICD11 code 8A44.0 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl