Ferrer X, Larrivière M, Coquet M, Ellie E, Lagueny A, Julien J
Service de Neurologie, Hôpital du Haut-Lévêque, Pessac.
Rev Neurol (Paris). 1993;149(12):788-93.
We report a series of 46 patients (32 women and 14 men) with limb-girdle syndrome. After reappraisal, another diagnosis was made in 10 of them. Becker's muscular dystrophy was the most frequent cause among men (near 50 p. 100). A Duchenne muscular dystrophy manifesting carrier was discovered among 13 reevaluated women. Among the 36 cases (29 women and 7 men) without any defined etiology, 29 were without any other known familial history. Fifteen of these women had similar clinical findings: incipient weakness in the pelvic girdle and onset of symptoms most often in the forties. In these cases serum creatine kinase activity was normal or slightly elevated, and muscle biopsy showed non-specific patterns. "Late onset muscular dystrophy in females" should be reevaluated.
我们报告了一组46例肢带型肌营养不良综合征患者（32名女性和14名男性）。重新评估后，其中10例有了其他诊断结果。贝克尔型肌营养不良是男性中最常见的病因（近50%）。在重新评估的13名女性中发现了1例杜氏肌营养不良症携带者。在36例（29名女性和7名男性）病因未明的病例中，29例无其他已知家族病史。这些女性中有15例有相似的临床表现：骨盆带开始出现肌无力，症状大多始于四十多岁。在这些病例中，血清肌酸激酶活性正常或略有升高，肌肉活检显示非特异性模式。“女性迟发性肌营养不良症”应重新评估。
