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Pelizaeus-Merzbacher disease, classic form
The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.
ORPHA:280219Classification level: Subtype of disorder
- Classic PMD
- Prevalence: 1-9 / 1 000 000
- Inheritance: X-linked recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E75.2
- OMIM: -
- UMLS: C0751916
- MeSH: -
- GARD: -
- MedDRA: -
PMD has an estimated prevalence of 1/400,000. The classic form accounts for approximately 70% of all cases of PMD. It predominantly affects males.
The classic form of PMD manifests during the first months of life with nystagmus and hypotonia, which is progressively replaced by spasticity. Later signs include ataxia, sometimes associated with dystonia of the axis and limbs, weakness, dysarthria, impaired motor development and intellectual deficit. Patients may learn to walk with assistance and their speech is understandable but slow.
The classic form of PMD is due most often to duplications but can also result from missense mutations of the PLP1 gene (on Xq22) that cause hypomyelination of the central nervous system. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20).
The disease has an X-linked inheritance pattern.
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