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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Pelizaeus-Merzbacher Disease
Nervous System Diseases > Demyelinating Diseases > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Leukoencephalopathies > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease

Preferred term

Pelizaeus-Merzbacher Disease  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Brain Pelizaeus-Merzbacher Sclerosis
  • Brain Sclerosis, Pelizaeus-Merzbacher
  • Leukodystrophy, Hypomyelinating, 1
  • Pelizaeus Merzbacher Brain Sclerosis
  • Pelizaeus-Merzbacher Brain Sclerosis
  • Pelizaeus Merzbacher Sclerosis, Brain
  • Pelizaeus-Merzbacher Sclerosis, Brain

Scope note

  • A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)

History note

  • 2000; use CEREBRAL SCLEROSIS, DIFFUSE 1979-1999

In other languages

  • Pelizaeus-Merzbacherin sairaus

    Finnish

  • Cockayne-Pelizaeus-Merzbacher
  • Cockayne-Pelizaeus-Merzbacherin sairaus
  • Cockayne-Pelizaeus-Merzbacherin tauti
  • Pelizaeus-Merzbacher
  • Pelizaeus-Merzbacherin tauti
  • Pelizaeus-Merzbachers sjukdom

    Swedish

  • Atypisk Pelizaeus-Merzbachers sjukdom
  • Cockayne-Pelizaeus-Merzbachers sjukdom
  • Klassisk Pelizaeus-Merzbachers sjukdom

URI

http://www.yso.fi/onto/mesh/D020371

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