About The Medical Condition Atypical Pelizaeus-Merzbacher Diseases
Find the definition of the medical term Atypical Pelizaeus-Merzbacher Diseases. Atypical Pelizaeus-Merzbacher Diseases defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Atypical Pelizaeus-Merzbacher Diseases
Atypical Pelizaeus-Merzbacher Diseases Medical Condition |
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What's The Definition Of The Medical Condition Atypical Pelizaeus-Merzbacher Diseases?
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. 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)
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