Ophthalmoplegia and ptosis in congenital fiber type disproportion.
Bilateral ophthalmoplegia and ptosis is reported for the first time in a patient with a rare neuromuscular disorder, congenital fiber type disproportion (CFTD). The importance of limb muscle biopsy in the diagnostic evaluation is emphasized. A summary is presented of other congenital neuromuscular diseases which may have associated ophthalmoplegia.
D001251:Astigmatism / Q000150:complications; D001763:Blepharoptosis / Q000150:complications* / Q000151:congenital; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009132:Muscles / Q000473:pathology; D009216:Myopia / Q000150:complications; D009468:Neuromuscular Diseases / Q000150:complications* / Q000151:congenital / Q000175:diagnosis; D009886:Ophthalmoplegia / Q000150:complications* / Q000151:congenital; D013285:Strabismus / Q000150:complications