Pelizaeus-Merzbacher spectrum disorder

Pelizaeus-Merzbacher spectrum disorder

Definition

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.

Also known as diffuse familial brain sclerosis, HLD1, Pelizaeus-Merzbacher brain sclerosis, Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, X-linked recessive, Pelizaeus-Merzbacher spectrum disorder, PMD, Sudanophilic leukodystrophy, Paelizeus-Merzbacher type — per MONDO

Also identified as

Affected Organs

Organ Involvement Source
Central nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Central nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0