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Pelizaeus-Merzbacher Disease
Definition: 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)

Synonym(s): Cockayne-Pelizaeus-Merzbacher Disease / Adult Pelizaeus-Merzbacher Disease / Atypical Pelizaeus-Merzbacher Disease / Classic Pelizaeus-Merzbacher Disease / Pelizaeus-Merzbacher Disease, Adult / Pelizaeus-Merzbacher Disease, Atypical / Pelizaeus-Merzbacher Disease, Classic / Pelizaeus-Merzbacher Disease, Transitional / Transitional Pelizaeus-Merzbacher Disease / Adult Pelizaeus Merzbacher Disease / Adult Pelizaeus-Merzbacher Diseases / Atypical Pelizaeus Merzbacher Disease / Atypical Pelizaeus-Merzbacher Diseases / Classic Pelizaeus Merzbacher Disease / Cockayne Pelizaeus Merzbacher Disease / Diseases, Adult Pelizaeus-Merzbacher / Diseases, Atypical Pelizaeus-Merzbacher / Pelizaeus Merzbacher Disease / Pelizaeus Merzbacher Disease, Adult / Pelizaeus Merzbacher Disease, Atypical / Pelizaeus Merzbacher Disease, Classic / Pelizaeus Merzbacher Disease, Transitional / Pelizaeus-Merzbacher Diseases, Adult / Pelizaeus-Merzbacher Diseases, Atypical / Transitional Pelizaeus Merzbacher Disease
See also:
Myelin Proteolipid Protein   

MeSH 2010 © U.S. National Library of Medicine®.
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  Web resources for "Pelizaeus-Merzbacher Disease"
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view the robot description of the site Pelizaeus-Merzbacher Disease Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comwww.wrongdiagnosis.com  
view the robot description of the site Pelizaeus-Merzbacher Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)www.ninds.nih.gov 2
view the robot description of the site Disease Information for Pelizaeus-Merzbacher disease: Clinical Manifestationsen.diagnosispro.com  
view the robot description of the site Whonamedit - Pelizaeus-Merzbacher diseasewww.whonamedit.com  
view the HON description of the site HONcode - Orphanet: Pelizaeus Merzbacher diseasewww.orpha.net  
 
 

Broader term(s): - Demyelinating Diseases - Nervous System Diseases - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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Broader term(s): - Nervous System Diseases
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Broader term(s): - Nervous System Diseases

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Genetic Diseases, X-Linked 
      Diseases
          Nervous System Diseases
              Demyelinating Diseases
                  Hereditary Central Nervous System Demyelinating Diseases 

MeSH 2010 © U.S. National Library of Medicine®.

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