Rowland L P, Hirano M, DiMauro S, Schon E A
Department of Neurology, Neurological Institute, New York, NY, USA.
Neuromuscul Disord. 1997 Oct;7 Suppl 1:S15-21. doi: 10.1016/s0960-8966(97)00076-x.
Progressive external ophthalmoplegia comprises many different disorders. Those of childhood onset can be separated from juvenile or adult onset. Among those of later onset the most common causes are oculopharyngeal muscular dystrophy, oculopharyngodistal muscular dystrophy and the several mitochondrial disorders, especially those with large deletions of mitochondrial DNA (mtDNA) (sporadic), those with maternal inheritance (point mutations), or the autosomal dominant forms with multiple deletions of mtDNA. Ophthalmoplegia of presumably neurogenic origin is seen in some of the familial spinocerebellar ataxias. Advances in molecular genetics should provide information about affected gene products and, therefore, pathogenesis.
进行性眼外肌麻痹包含许多不同的病症。儿童期发病的类型可与青少年或成人期发病的类型区分开来。在晚发型病例中，最常见的病因是眼咽型肌营养不良症、眼咽远端型肌营养不良症以及几种线粒体疾病，特别是那些线粒体DNA（mtDNA）有大片段缺失的（散发性）、母系遗传的（点突变）或mtDNA有多处缺失的常染色体显性遗传形式。在一些家族性脊髓小脑共济失调症中可观察到推测为神经源性的眼肌麻痹。分子遗传学的进展应能提供有关受影响基因产物的信息，从而揭示发病机制。
