A 63 year old male presented with a 20 year history of facial weakness and several years of nasal regurgitation and dysphonia. Examination revealed bilateral facial weakness with nasal speech. Serum creatine kinase was 918 U/L. Neurophysiological studies suggested a myopathy and biopsy of the left vastus lateralis showed serpentine basophilic inclusions in the sarcoplasm and strong oxidative enzyme activity suggesting mitochondria accumulation. The muscle MRI showed selective fatty replacement within semitendinosus, gastrocnemius and soleus indicative of a desminopathy. A heterozygous missense variant c.17C>G (p.Ser6Trp) was identified within DES, predicted to be pathogenic in silico and previously described in a family with distal limb weakness. There are no previous case reports of desminopathy presenting with facial weakness, to our knowledge. Diagnosis was suggested following myoimaging of clinically unaffected muscles. Our study highlights the importance of muscle MRI in the diagnostic evaluation of muscle disease and further expands the known phenotypic heterogeneity of desminopathies.

一名 63 岁男性因面部无力 20 年和数年鼻腔反流和发声困难就诊。检查显示双侧面部无力并伴有鼻音。血清肌酸激酶为 918 U/L。神经生理学研究表明，左侧股外侧肌的肌病和活检显示肌浆中存在蛇形嗜碱性包涵体和强氧化酶活性，表明线粒体积累。肌肉 MRI 显示半腱肌、腓肠肌和比目鱼肌内的选择性脂肪替代，表明存在结蛋白病。在DES 中发现了一个杂合错义变异 c.17C>G (p.Ser6Trp) ，预计在计算机上是致病性的并且之前在一个患有远端肢体无力的家庭中描述过。据我们所知，以前没有出现面部无力的肌纤维病病例报告。在对临床未受影响的肌肉进行肌成像后，建议进行诊断。我们的研究强调了肌肉 MRI 在肌肉疾病诊断评估中的重要性，并进一步扩展了结蛋白病的已知表型异质性。