PelizaeusMerzbachers
Pelizaeus–Merzbacher disease (PMD) is a rare X-linked recessive hypomyelinating leukodystrophy caused by mutations in the PLP1 gene on the X chromosome. It disrupts the production or maintenance of myelin, the insulating sheath around nerve fibers, leading to a spectrum of lifelong neurological impairments.
Genetics and presentation vary by mutation. PLP1 gene duplications commonly produce classic to severe forms, sometimes
Clinical features evolve over time. Infants often show nystagmus and hypotonia, with delayed motor development. As
Diagnosis relies on neuroimaging and genetic testing. MRI typically reveals diffuse hypomyelination of the central white
There is no cure. Management is supportive and multidisciplinary, emphasizing physical and occupational therapy, management of