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