Kitsis Elizabeth A, Napier Fabreena, Juthani Viral, Geyer Howard L
Medicine, Albert Einstein College of Medicine, Bronx, New York, USA.
Medicine, Montefiore Medical Center, Bronx, New York, USA.
BMJ Case Rep. 2019 Aug 28;12(8):e229611. doi: 10.1136/bcr-2019-229611.
A 47-year-old woman presented with sicca symptoms, polyarthralgias, polymyalgias and dysphagia. She was found to have positive antinuclear, anti-SSA-Ro and anti-SSB-La antibodies. Slit lamp exam confirmed the presence of keratoconjunctivitis sicca, and the patient was diagnosed with Sjögren's syndrome. Three years later, she was referred for evaluation of gait instability associated with recent falls. On physical examination, the patient was found to have bilateral ptosis, percussion myotonia, distal upper and lower extremity weakness, and a steppage gait. Electromyography demonstrated electrical myotonia. Genetic testing revealed expanded CTG repeats (733 and 533) in the myotonic dystrophy type 1 (DM1) protein kinase gene, confirming the diagnosis of DM1. Dysphagia, pain and eye discomfort may occur in both Sjögren's syndrome and DM1, and in this case, may have delayed the diagnosis of muscular dystrophy.
一名47岁女性出现干燥症状、多关节痛、多肌痛和吞咽困难。检查发现其抗核抗体、抗SSA - Ro抗体和抗SSB - La抗体呈阳性。裂隙灯检查证实存在干燥性角结膜炎，该患者被诊断为干燥综合征。三年后，她因近期跌倒相关的步态不稳前来评估。体格检查发现患者有双侧上睑下垂、叩击性肌强直、远端上肢和下肢无力以及跨阈步态。肌电图显示有肌强直电活动。基因检测显示1型强直性肌营养不良（DM1）蛋白激酶基因中的CTG重复序列扩增（733和533），确诊为DM1。吞咽困难、疼痛和眼部不适在干燥综合征和DM1中均可能出现，在本病例中，可能延误了肌营养不良的诊断。
