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Pelizaeus-Merzbacher Disease (PMD)

Disease Info

Prevalence	Approximately 1 in 100,000 to 1 in 400,000 in the general population (Bonkowsky et al., 2010)
Typical Onset	First year
Inheritance	X-linked recessive; predominantly affects males
Carrier females	Heterozygous females are usually asymptomatic but may develop late-onset progressive neurological symptoms, particularly those carrying point mutations
Most common mutation type	PLP1 gene duplications account for approximately 60-70% of PMD cases
Geographic distribution	Reported worldwide across all ethnic groups
Presentation	Similar to classic PMD but with prominent peripheral neuropathy
Course	Milder CNS involvement than classic PMD but with significant peripheral nerve demyelination
Cognition	Severely impaired
Survival	Typically death from respiratory complications during childhood, though attentive care can extend survival into the third decade
Genetics	PLP1 deletions or null mutations
Distinctive feature	Peripheral neuropathy differentiates this from other forms
Databases	OMIM Orphanet ClinicalTrials PubMed

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