249 top medical experts on Pelizaeus-Merzbacher Disease across 31 countries and 21 U.S. states, including 69 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Pelizaeus-Merzbacher Disease: 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)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Hereditary Central Nervous System Demyelinating Diseases (1,644), X-Linked Genetic Diseases (2,304).
  4. Clinical Trials ClinicalTrials.gov : at least 4 including 2 Completed, 2 Recruiting
  5. Synonyms: Cockayne-Pelizaeus-Merzbacher Disease


  

        

                    


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