Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA.
Neuromuscul Disord. 2010 Feb;20(2):122-4. doi: 10.1016/j.nmd.2009.11.005. Epub 2010 Jan 13.
Two siblings were evaluated for progressive proximal weakness and elevated creatine kinase. Immunohistochemical staining in the brother's muscle biopsy showed near absence of all four sarcoglycan subunits. Clinical progression prompted a trial of deflazacort in both siblings. At 22 months of drug therapy, both patients have stable or improved strength testing. Further analysis on the muscle biopsy revealed homozygous beta-sarcoglycan gene mutation (S114F), consistent with the limb-girdle muscular dystrophy type 2E (LGME 2E). Despite the severe phenotype, deflazacort has a beneficial effect on slowing disease progression in LGME 2E similar to that seen in Duchenne muscular dystrophy.
两名兄弟姐妹因进行性近端肌无力和肌酸激酶升高而接受评估。哥哥的肌肉活检免疫组织化学染色显示所有四种 sarcoglycan 亚基几乎完全缺失。临床进展促使两兄弟都尝试了 deflazacort。在药物治疗 22 个月后，两名患者的肌力测试均稳定或改善。对肌肉活检的进一步分析显示，beta-sarcoglycan 基因突变（S114F）纯合子，符合肢带型肌营养不良症 2E 型（LGME 2E）。尽管表型严重，但 deflazacort 对 LGME 2E 疾病进展的减缓作用与在杜氏肌营养不良症中所见的相似，具有有益效果。
