Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK.
Neuromuscul Disord. 2011 Feb;21(2):121-5. doi: 10.1016/j.nmd.2010.10.002. Epub 2010 Oct 30.
Oculopharyngodistal myopathy is an uncommon myopathy characterised clinically by cranial and distal limb muscle weakness. Here we describe two siblings with autosomal dominant oculopharyngodistal myopathy apparently associated with dilated cardiomyopathy, which in one case progressed to ventricular hypertrabeculation/non-compaction. Electrocardiographic screening was normal and the cardiomyopathy was detected only with echocardiography. Our findings suggest that patients with oculopharyngodistal myopathy should be screened for cardiomyopathy (with both electrocardiography and echocardiography).
眼咽远端肌病是一种不常见的肌病，临床上以颅神经和四肢远端肌肉无力为特征。在这里，我们描述了两例常染色体显性遗传的眼咽远端肌病的同胞，他们明显伴有扩张型心肌病，其中一例进展为心室心肌致密化不全/非致密化。心电图筛查正常，仅通过超声心动图发现心肌病。我们的研究结果表明，眼咽远端肌病患者应进行心肌病筛查（包括心电图和超声心动图）。
