Pelizaeus-Merzbacher disease (PMD) is a rare and progressive condition affecting the central nervous system.1 It is one of a group of gene-linked disorders known as the leukodystrophies, which are all characterised by myelin sheath abnormalities. This is due to a mutation in the gene that controls the production of a myelin protein called proteolipid protein 1 (PLP1). The exact type of PLP1 mutation dictates the onset and severity of PMD. PMD can be classified into different types:
This is a companion discussion topic for the original article at https://patient.info/doctor/pelizaeus-merzbacher-disease.htm