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Category:Pelizaeus-Merzbacher Disease
Created 5 October 2007  +
CurationStatus uncurated  +
Definition A rare, slowly progressive disorder of mye 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) (MeSH). cular islands (trigoid appearance) (MeSH).
Id birnlex_12546  +
Label Pelizaeus-Merzbacher Disease  +
Modification dateThis property is a special property in this wiki. 30 May 2009 01:38:34  +
ModifiedDate 30 May 2009  +
SuperCategory Hereditary Central Nervous System Demyelinating Diseases  +
Synonym Cockayne-Pelizaeus-Merzbacher Disease  +
Categories Hereditary Central Nervous System Demyelinating Diseases
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