APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, 104 Bld Raymond Poincaré, 92380 Garches, France.
APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Institut de Myologie, G.H. Pitié-Salpêtrière, F-75013 Paris, France; Université Sorbonne, INSERM U974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris F-75013, France.
Neuromuscul Disord. 2019 Sep;29(9):678-683. doi: 10.1016/j.nmd.2019.06.009. Epub 2019 Jun 19.
Emery-Dreifuss muscular dystrophy is an early-onset, slowly progressive myopathy characterized by the development of multiple contractures, muscle weakness and cardiac dysfunction. We present here the case of a 65-year-old male patient with a 20 year history of slowly progressive camptocormia, bradycardia and shortness of breath. Examination showed severe spine extensor and neck flexor muscle weakness with slight upper limb proximal weakness. Cardiologic assessment revealed slow atrial fibrillation. Whole body MRI demonstrated adipose substitution of the paravertebral, limb girdle and peroneal muscles as well as the tongue. Emerin immunohistochemistry on patient muscle biopsy revealed the absence of nuclear envelope labeling confirmed by Western Blot. Genetic analysis showed a hemizygous duplication of 5 bases in exon 6 of the EMD, emerin, gene on the X chromosome. This is an unusual presentation of X-linked Emery-Dreifuss muscular dystrophy with adult onset, predominant axial muscles involvement and minimal joint contractures. Diagnosis was prompted by the analysis of emerin on muscle biopsy.
先天性肌营养不良症是一种早发、进行性缓慢的肌病，其特征是出现多个挛缩、肌肉无力和心脏功能障碍。我们在此介绍一名 65 岁男性患者，他有 20 年缓慢进行性脊柱前凸、心动过缓和呼吸急促病史。检查发现严重的脊柱伸肌和颈部屈肌无力，上肢近端肌力稍弱。心脏评估显示缓慢的心房颤动。全身 MRI 显示椎旁、肢体带和腓肠肌以及舌部脂肪替代。患者肌肉活检的弹力蛋白免疫组化显示核包膜标记缺失，Western blot 进一步证实。基因分析显示 X 染色体上 EMD 基因（弹力蛋白）外显子 6 中 5 个碱基的杂合性重复。这是一种不常见的 X 连锁先天性肌营养不良症表现，具有成年起病、主要累及轴性肌肉和最小关节挛缩的特点。肌肉活检弹力蛋白分析提示诊断。
