On some myopathies with oculomotor involvement.
The conditions under discussion are the oculopharyngeal muscular dystrophy, the various forms of centronuclear myopathies and a variant of the multiminicore disease, namely the pleocore disease. For each of these disorders, the main clinical (including the involvement of the extraocular muscles) and histopathological features are illustrated using already reported or unpublished personal observations. The accent will essentially be laid on the lack of specificity of the clinical symptoms in congenital myopathies and on the difficulties to identify specific histological characteristics.
Martin
J J
JJ
Department of Neurology, University Hospital, University of Antwerp.
D000328:Adult; D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000648:ultrastructure*; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology; D009886:Ophthalmoplegia / Q000473:pathology; D010609:Pharyngeal Muscles