Methods
The study examined 16 PMD Patients ranging in age from 7 to 48, who had
a documented PLP1 gene duplication. The study examined and
analyzed the medical and developmental histories of the subjects
utilizing a combination of resources that included medical history
questionnaires, medical record reviews, and a 31-point functional
disability scale that had been previously validated. The data extracted
from the medical records and questionnaires for analysis included
information related to medical and developmental histories, level of
ambulation and cognition, and degree of functional disability.