Pelizaeus-Merzbacher disease

Pathology

• progressive, degenerative demyelinating disease
• one of a group of leukodystrophies

Genetics

• X-linked recessive trait
• associated with point mutations in PLP1 (lipophilin) gene

Clinical manifestations

• muscle weakness
• nystagmus
• delay in motor development within the 1st year of life
• coordination, motor abilities, & intellectual function deteriorate

Laboratory

• PLP1 gene mutation

Management

• no cure, no standard treatment
• treatment is symptomatic & supportive

More general terms

• demyelinating disease
• X-linked disease
• disease/disorder primarily affecting brain
• leukodystrophy

Additional terms

• autosomal dominant adult-onset leukodystrophy (autosomal dominant Pelizaeus-Merzbacher disease)
• Pelizaeus-Merzbacher-like disease

Patient information

Pelizaeus-Merzbacher disease patient information

Database

• OMIM: https://mirror.omim.org/entry/312080