Departments of 1Neurology and 2Laboratory Medicine, Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea.
Yonsei Med J. 2011 Jan;52(1):192-5. doi: 10.3349/ymj.2011.52.1.192.
Duchenne muscular dystrophy usually affects males. However, females are also affected in rare instances. Approximately 8% of female Duchenne muscular dystrophy (DMD) carriers are manifesting carriers and have muscle weakness to some extent. We investigated the clinical features of 3 female patients with dystrophinopathy diagnosed by clinical, pathological, and genetic studies at our neuromuscular disease clinic. The onset age of manifesting symptoms varied (8-28 years). Muscle weakness grade varied as follows: patient 1 showed asymmetrical bilateral proximal upper and lower extremities weakness, patient 2 showed asymmetrical bilateral upper extremities weakness similar to scapulohumoral muscular dystrophy, and patient 3 had only bilateral asymmetric proximal lower extremities weakness. Two patients had familial histories of DMD (their sons were diagnosed with DMD), but the 1 remaining patient had no familial history of DMD. The serum creatine kinase level was elevated in all patients, but it was not correlated with muscular weakness. An electromyography study showed findings of myopathy in all patients. One patient was diagnosed with a DMD carrier by a muscle biopsy with an immunohistochemical stain (dystrophin). The remaining 2 patients with familial history of DMD were diagnosed by multiplex ligation-dependent probe amplification (MLPA). There were inconsistent clinical features in the female carriers. An immunohistochemical analysis of dystrophin could be useful for female carrier patients. Also, multiplex ligation-dependent probe amplification is essential for the diagnosis of a manifesting female carrier DMD in female myopathic patients because conventional multiplex PCR could not detect the duplication and is less accurate compared to MLPA.
杜氏肌营养不良症通常影响男性。然而，在极少数情况下，女性也会受到影响。大约 8%的女性杜氏肌营养不良症（DMD）携带者是表现型携带者，在某种程度上存在肌肉无力。我们在神经肌肉疾病诊所通过临床、病理和遗传学研究诊断了 3 名患有肌营养不良症的女性患者，研究了她们的临床特征。症状出现的发病年龄各不相同（8-28 岁）。肌肉无力的严重程度如下：患者 1 表现为双侧不对称性近端上下肢无力，患者 2 表现为双侧不对称性类似于肩胛肱骨型肌营养不良的上肢无力，患者 3 仅表现为双侧不对称性近端下肢无力。两名患者有 DMD 的家族史（他们的儿子被诊断为 DMD），但另一名患者没有 DMD 的家族史。所有患者的血清肌酸激酶水平升高，但与肌肉无力无关。肌电图研究显示所有患者均有肌病表现。一名患者通过肌肉活检和免疫组化染色（肌营养不良蛋白）被诊断为 DMD 携带者。另外两名有 DMD 家族史的患者通过多重连接依赖性探针扩增（MLPA）被诊断。女性携带者的临床表现不一致。肌营养不良蛋白的免疫组化分析对女性携带者患者可能有用。此外，对于女性肌病患者中表现型女性 DMD 携带者的诊断，多重连接依赖性探针扩增是必不可少的，因为传统的多重 PCR 无法检测到重复序列，并且与 MLPA 相比准确性较低。
