Pelizaeus-Merzbacher disease
ORPHA:702· ICD-10 E75.2
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.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- All ages