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Pelizaeus Merzbacher disease

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to James Garbern, MD, PhD, FAAN, deceased, Department of Neurology & Center for Molecular Medicine & Genetics, Wayne State University, for assistance in the preparation of this report.

Synonyms of Pelizaeus Merzbacher disease

  • Pelizaeus-Merzbacher disease
  • PMD
  • sclerosis, diffuse familial brain
  • sudanophilic leukodystrophy, Pelizaeus-Merzbacher type

Disorder Subdivisions

  • acute infantile Pelizaeus-Merzbacher brain sclerosis
  • autosomal dominant Pelizaeus-Merzbacher brain sclerosis
  • classical x-linked Pelizaeus-Merzbacher brain sclerosis
  • late onset Pelizaeus-Merzbacher brain sclerosis

General Discussion

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked genetic disorder affecting the central nervous system that is associated with abnormalities of the white matter of the brain and spinal cord. Symptoms develop due to lack of the fatty covering (myelin sheath) of nerve cell fibers. Many areas of the central nervous system may be affected, including the deep portions of the cerebrum (subcortical), cerebellum, brain stem and spinal cord. Signs may include the impaired ability to coordinate movement (ataxia), involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs, delays in reaching developmental milestones, and late onset loss of motor abilities and progressive deterioration of intellectual function. The neurologic signs of Pelizaeus-Merzbacher disease are usually slowly progressive.

Pelizaeus-Merzbacher disease is associated with abnormalities (mutations) in the PLP1 gene. Several forms of the disorder have been identified including classic PMD; connatal PMD; transitional PMD; and PLP1 null syndrome. Forms of complicated spastic paraparesis and pure spastic paraparesis (designated SPG2) are also caused by the PLP1 gene.

Organizations related to Pelizaeus Merzbacher disease

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