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.