Zeevaert B, Sadzot B, Deprez M, Wang F C
Service d'Electromyographie et de Médecine de l'Appareil Locomoteur, CHU Sart Tilman, Bâtiment B35, niveau 2, 4000 Liège, Belgique.
Rev Neurol (Paris). 2002 Dec;158(12 Pt 1):1210-3.
We report the case of a 57-year-old woman, who presented with progressive weakness of ankle's dorsiflexors. Electromyography showed bilateral myogenic patterns in the anterior tibialis predominantly in the left side. Muscle biopsy of the right tibialis anterior showed non specific dystrophic changes. The familial evaluation revealed a son showing scapuloperoneal amyotrophy and facial involvement. Analysis of the propositus' DNA showed a mutation at locus 4q35, characteristic of facioscapulohumeral muscular dystrophy. This case illustrates the wide clinical spectrum of FSH dystrophy and the difficulty to diagnose unusual facial-sparing forms.
我们报告了一例57岁女性病例，该患者表现为踝关节背屈肌进行性无力。肌电图显示双侧胫前肌出现肌源性模式，主要在左侧。右侧胫前肌的肌肉活检显示非特异性营养不良性改变。家族评估发现一名儿子患有肩胛腓骨肌萎缩症且累及面部。对先证者的DNA分析显示在4q35位点存在突变，这是面肩肱型肌营养不良症的特征。该病例说明了面肩肱型肌营养不良症广泛的临床谱以及诊断不常见的面部未受累形式的困难。
