Patel Nirupa J, Van Dyke Kenneth W, Espinoza Luis R
Division of Rheumatology, Louisiana State University Health Science Center, New Orleans, Louisiana.
Division of Rheumatology, Louisiana State University Health Science Center, New Orleans, Louisiana.
Am J Med Sci. 2017 May;353(5):484-491. doi: 10.1016/j.amjms.2016.05.024. Epub 2016 May 30.
We report the following 2 subtypes of progressive limb-girdle dystrophy type 2B: limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi. The first patient described had weakness in the anterior thigh muscles (LGMD2B) and the second patient had calf muscle weakness and atrophy (Miyoshi). Literature review was performed and LGMD2B was compared and distinguished from other myopathies of similar nature. Genetic testing with polymerase chain reaction analysis of the DYSF gene confirmed the diagnosis in both patients. Additional findings of histopathology, specific stain for sarcolemmal membrane protein, Western blot analysis and clinical presentation clinched the diagnosis further of dysferlinopathy (LGMD2B) in both our patients. Currently, there is no definitive treatment on the horizon and immunosuppressive therapy is not recommended for this condition. Gene therapy may have a future role, but at present, muscle-strengthening exercises and patient awareness are the mainstays.
我们报告了以下2种2B型进行性肢带型肌营养不良的亚型：2B型肢带型肌营养不良（LGMD2B）和宫下型。所描述的首例患者表现为大腿前侧肌肉无力（LGMD2B），第二例患者表现为小腿肌肉无力和萎缩（宫下型）。我们进行了文献综述，并将LGMD2B与其他性质相似的肌病进行了比较和鉴别。通过聚合酶链反应分析DYSF基因进行基因检测，确诊了这两名患者。组织病理学的其他发现、肌膜蛋白的特异性染色、蛋白质免疫印迹分析和临床表现进一步确诊了我们两名患者的dysferlin病（LGMD2B）。目前，尚无明确的治疗方法，不建议对这种疾病进行免疫抑制治疗。基因治疗可能在未来发挥作用，但目前，加强肌肉锻炼和提高患者意识是主要的治疗手段。
