Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 5.
Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 5.
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上睑下垂是Emery-Dreifuss肌营养不良症5型患者的临床表现。
DOI：
10.1097/wno.0000000000001187
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发表时间：
2021-09-01
期刊：
影响因子：
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通讯作者：
Chwalisz BK
中科院分区：
文献类型：
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作者：
Douglas KAA;Douglas VP;Gaier ED;Chwalisz BK
Emery-Dreifuss肌营养不良症（EDMD）是一种罕见的，通常是缓慢进行性的遗传性疾病，主要影响骨骼肌和心肌。挛缩沿着关节畸形也被认为是该病的早期特征[1]。目前，EDMD有9种类型。位于染色体14 q23上的SYNE 2基因编码核膜蛋白;该基因的异质性突变导致EDMD 5型（EDMD 5），这是一种成人发病的常染色体显性肌营养不良症（2）。然而，疾病表型是不完全定义。我们报告一例EDMD 5表现为双侧上睑下垂和轻度肌无力。一位38岁右利手的女性，主诉上睑下垂。她报告缓慢进行性无痛和非波动性双侧眼睑下垂。在进一步的询问中，她最近也开始出现吞咽困难。她没有构音障碍、发音困难、呼吸困难或手臂无力，但在一天结束时确实感到双腿无力。仔细查看之前的外部照片，证实自20多岁起，上睑下垂逐渐恶化（图1）。患者无显著病史。她是从葡萄牙大陆移民到美国的。无眼部、神经系统或神经肌肉疾病家族史。临床检查显示不对称的双侧上睑下垂（左侧。右）。光反射的上缘右侧为2 mm，左侧为0 mm，上眼睑总偏移右侧为13.5 mm，左侧为12 mm。她的眼球运动完整，没有眼位不正。轻度眼轮匝肌无力和轻度颈部屈伸无力。在四肢，二头肌、三头肌、三角肌、冈下肌和髋外展肌有轻度无力，但远端肌群有充分的力量。存在肌肉牵张反射，但活动减退。感官检查正常。血清学评价（包括MuSK和LRP 4抗体的重症肌无力抗体组）仅在CK水平升高（752单位/L）时具有显著性。肌电图正常，包括单纤维肌电图无异常抖动。肌营养不良症遗传小组（Medical Neurogenetics，LLC，Atlanta，GA）揭示了SYNE 2中的杂合变体（Chr 14：64676190，c. 18434A. G，p. Tyr 6145 Cys，rs755990889，等位基因频率：
Emery–Dreifuss muscular dystrophy (EDMD) is a rare and often slowly progressive genetic disorder that primarily affects skeletal muscles and cardiac muscle. Contractures along with joint deformities are also considered early features of the disease (1). Currently, 9 types of EDMD are recognized. The SYNE2 gene, located on chromosome 14q23 codes for a nuclear envelope protein; a heterogeneous mutation in this gene leads to EDMD Type 5 (EDMD5), an adult-onset, autosomal dominant muscular dystrophy (2). However, the disease phenotype is incompletely defined. We report a case of EDMD5 presenting with bilateral ptosis and mild muscular weakness. A 38-year-old right-handed woman presented with a chief complaint of ptosis. She reported slowly progressive painless and nonfluctuating bilateral eyelid ptosis. On further questioning, she recently also started having difficulty in swallowing. She had no dysarthria, dysphonia, dyspnea, or arm weakness but did feel that her legs were weak at the end of the day. Careful review of previous external photographs confirmed a gradual worsening of the ptosis since her twenties (Fig. 1). The patient had no significant medical history. She had immigrated to the United States from mainland Portugal. There was no family history of ocular, neurologic, or neuromuscular disease. The clinical examination showed asymmetric bilateral ptosis (left. right). The upper margin to light reflexes was 2 mm on the right and 0 mm on the left, with a total upper lid excursion of 13.5 mm on the right and 12 mm on the left. She had intact eye movements, and no ocular misalignment. There was mild orbicularis oculi weakness and mild neck flexion and extension weakness. In the extremities, there was mild weakness of biceps, triceps, deltoid, infraspinatus, and hip abductor muscles, but distal muscle groups had full strength. Muscle stretch reflexes were present but hypoactive. Sensory examination was normal. Serologic evaluation, including a myasthenia gravis antibody panel with MuSK and LRP4 antibodies, was significant only for increased CK levels (752 units/L). EMG was normal, including single-fiber EMG without abnormal jitter. A muscular dystrophy genetic panel (Medical Neurogenetics, LLC, Atlanta, GA) revealed a heterozygous variant in SYNE2 (Chr14: 64676190, c. 18434A. G, p. Tyr6145Cys, rs755990889, allele frequency: