Pelizaeus Merzbacher disease

Pelizaeus-Merzbacher disease (pronunciation: pɛˌliːtseɪʊs ˈmɛrtsbaːxər) is a rare, progressive, degenerative central nervous system disorder.

Etymology

The disease is named after the German physicians Friedrich Pelizaeus (1851–1942) and Ludwig Merzbacher (1875–1942), who first described it in the late 19th and early 20th centuries, respectively.

Definition

Pelizaeus-Merzbacher disease (PMD) is a leukodystrophy, a group of disorders characterized by the abnormal development or destruction of myelin, the protective covering of nerve fibers in the brain. PMD is caused by mutations in the PLP1 gene and is inherited in an X-linked recessive manner.

Symptoms

Symptoms of PMD can vary widely among affected individuals and may include nystagmus (rapid, involuntary eye movements), spasticity (stiffness and muscle spasms), ataxia (lack of muscle control), and cognitive impairment.

Related Terms

• Leukodystrophy
• Myelin
• PLP1
• X-linked recessive

See Also

• Genetic disorder
• Neurological disorder
• Rare disease

References

• National Institute of Neurological Disorders and Stroke. (2020). Pelizaeus-Merzbacher Disease Information Page. Retrieved from https://www.ninds.nih.gov/Disorders/All-Disorders/Pelizaeus-Merzbacher-Disease-Information-Page
• Genetics Home Reference. (2020). Pelizaeus-Merzbacher disease. Retrieved from https://ghr.nlm.nih.gov/condition/pelizaeus-merzbacher-disease

External links

• Medical encyclopedia article on Pelizaeus Merzbacher disease
• Wikipedia's article - Pelizaeus Merzbacher disease

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