| 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 | OMIMOrphanetClinicalTrialsPubMed |
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