Felice Kevin J, Jones Jennifer M, Conway Stephen R
Department of Neurology, University of Connecticut School of Medicine, Farmington, Connecticut 06030-1840, USA.
Muscle Nerve. 2005 Sep;32(3):368-72. doi: 10.1002/mus.20344.
We report a family with markedly variable myopathic weakness due to facioscapulohumeral muscular dystrophy (FSHD). The proband developed mild late-onset proximal limb weakness. Her two daughters had severe infantile facial diplegia, initially diagnosed as Möbius syndrome, and mild childhood-onset limb weakness and scapular winging. Results of facial muscle electromyography and muscle histopathology supported a myopathic disorder. This case study further highlights the broad clinical spectrum and intrafamily variability in FSHD, and the occasional absence of a positive correlation between fragment size and disease onset. Moreover, this study underscores the importance of considering FSHD in cases of infantile facial diplegia, especially in patients not demonstrating the full clinical features of Möbius syndrome. In difficult cases, facial muscle electromyography may help to differentiate myopathic from neuropathic weakness, and help guide further diagnostic studies.
我们报告了一个因面肩肱型肌营养不良（FSHD）导致肌病性肌无力表现显著可变的家系。先证者出现轻度迟发性近端肢体无力。她的两个女儿患有严重的婴儿期双侧面瘫，最初被诊断为莫比乌斯综合征，还有轻度儿童期起病的肢体无力和肩胛翼状畸形。面部肌肉肌电图和肌肉组织病理学结果支持肌病性疾病。本病例研究进一步凸显了FSHD广泛的临床谱和家系内变异性，以及片段大小与疾病起病之间偶尔缺乏正相关。此外，本研究强调了在婴儿期双侧面瘫病例中考虑FSHD的重要性，尤其是在未表现出莫比乌斯综合征全部临床特征的患者中。在疑难病例中，面部肌肉肌电图可能有助于区分肌病性与神经性肌无力，并有助于指导进一步的诊断研究。
