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Neuromuscul Disord. 2011 Apr;21(4):272-8. doi: 10.1016/j.nmd.2010.12.008. Epub 2011 Jan 13.

Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye.

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Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 Nijmegen HB, The Netherlands.


We determined the extent of disease impact in 28 patients with genetically confirmed chronic progressive external ophthalmoplegia (CPEO) and compared the outcomes to those of matched myotonic dystrophy type I patients. CPEO patients reported a high frequency of severe fatigue (67.9%), pain (96.2%), depression (32.1%) and dependency in daily life (46.4%). The frequency and extent of depression were significantly higher than in DM1 patients (32.1% vs. 7.1%, p=0.040; mean Beck's depression inventory for primary care score 3.8±3.5 vs. 1.3±1.4, p=0.001), as were fatigue severity, pain intensity and extent of functional impairments. CPEO patients with polymerase gamma-1 mutations reported more functional impairments than those with mitochondrial DNA mutations. Disease impact was however not influenced by most clinical features. The present results help physicians to identify and to treat the factors that influence quality of life in CPEO patients and to provide symptomatic treatment where needed.

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