Pelizaeus-Merzbacher disease (Q40068): Difference between revisions
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Revision as of 05:43, 13 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8A44.0 |
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| English | Pelizaeus-Merzbacher disease |
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. |
