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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

Interactions

disease interactions

Related

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

General

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

Database Correlations

OMIM 312080

References

  1. PROSITE :accession {PS00575 PS01004}
  2. National Institute of Neurological Disorders and Stroke (NINDS) NINDS Pelizaeus-Merzbacher Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Pelizaeus-Merzbacher-Disease-Information-Page