Nadaj-Pakleza Aleksandra A, Vincitorio Carlo M, Laforêt Pascal, Eymard Bruno, Dion Elisabeth, Teijeira Susana, Vietez Irene, Jeanpierre Marc, Navarro Carmen, Stojkovic Tanya
Institute of Myology, Pitié-Salpêtrière Hospital, 47-83, Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.
Muscle Nerve. 2009 Sep;40(3):350-7. doi: 10.1002/mus.21351.
McArdle disease is an autosomal recessive muscle glycogenosis. In the typical clinical presentation, only exercise-related symptoms are noted. Nevertheless, permanent weakness may occur, usually late in life. In this study we report on the clinical and genetic features of fixed muscle weakness in McArdle disease. Among the 80 McArdle patients being followed at the Institute of Myology of the Salpêtrière Hospital, 9 patients have permanent weakness. The diagnosis of McArdle disease was confirmed by muscle biopsy and genetic investigations. Two patterns of muscle weakness and wasting were noted: (1) proximal and symmetric in 5 patients; and (2) asymmetric, mimicking facioscapulohumeral dystrophy (FSHD) in 4 patients. Computerized tomography scan showed fatty infiltration in the shoulder and pelvic girdle muscles. There was no clear correlation between genotype and the severity of muscle weakness. Proximal muscle weakness appeared after the age of 40 years and affected 11% of subjects in our series of 80 McArdle patients. Among patients over 40 years of age, 37.5% had muscle weakness.
麦克尔迪氏病是一种常染色体隐性遗传性肌肉糖原贮积症。在典型的临床表现中，仅会出现与运动相关的症状。然而，永久性肌无力可能会发生，通常在生命后期出现。在本研究中，我们报告了麦克尔迪氏病中固定性肌肉无力的临床和遗传特征。在萨尔佩特里埃医院肌病研究所随访的80例麦克尔迪氏病患者中，有9例出现永久性肌无力。麦克尔迪氏病的诊断通过肌肉活检和基因检测得以证实。观察到两种肌肉无力和萎缩的模式：（1）5例患者表现为近端对称性肌无力；（2）4例患者表现为不对称性肌无力，类似面肩肱型肌营养不良（FSHD）。计算机断层扫描显示肩胛带和骨盆带肌肉存在脂肪浸润。基因型与肌无力严重程度之间无明显相关性。近端肌无力出现在40岁之后，在我们的80例麦克尔迪氏病患者系列中，11%的受试者受到影响。在40岁以上的患者中，37.5%患有肌无力。
