8A44.0
Pelizaeus-Merzbacher disease
Doença de Pelizaeus-Merzbacher
CategoryDefinition
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.
Index Terms
Pelizaeus-Merzbacher diseasePelizaeus-Merzbacher disease late onset formPelizaeus-Merzbacher disease, connatal formPelizaeus-Merzbacher disease, classic formPelizaeus-Merzbacher disease, transitional formPelizaeus-Merzbacher disease in female carriersNull syndrome