OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, OTHER OCULAR MYOPATHIES, AND PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Progressive external ophthalmoplegia comprises many different disorder s. Those of childhood onset can be separated from juvenile or adult on set. Among those of later onset the most common causes are oculopharyn geal muscular dystrophy, oculopharyngodistal muscular dystrophy and th e several mitochondrial disorders, especially those with large deletio ns of mitochondrial DNA (mtDNA) (sporadic), those with maternal inheri tance (point mutations), or the autosomal dominant forms with multiple deletions of mtDNA. Ophthalmoplegia of presumably neurogenic origin i s seen in some of the familial spinocerebellar ataxias. Advances in mo lecular genetics should provide information about affected gene produc ts and, therefore, pathogenesis. (C) 1997 Elsevier Science B.V.