Department of Neurology, Konkuk University School of Medicine, Seoul, Republic of Korea.
J Neurol Sci. 2011 Sep 15;308(1-2):147-8. doi: 10.1016/j.jns.2011.06.023. Epub 2011 Jul 13.
Neurogenic muscle hypertrophy is very unusual and has been rarely described. We described a 25-year-old woman presented with proximal muscle weakness with calf muscle hypertrophy. Limb magnetic resonance imaging scans showed increased muscle bulk without fatty changes, and a muscle biopsy revealed prominent hypertrophic type II muscle fibers. A mutation in SMN1 was found in a genetic analysis. This is the first report of neurogenic muscle hypertrophy seen in genetically confirmed spinal muscular atrophy III.
神经源性肌肉肥大非常罕见，鲜有报道。我们描述了一位 25 岁女性，表现为近端肌肉无力伴小腿肌肉肥大。肢体磁共振成像扫描显示肌肉体积增加而无脂肪变化，肌肉活检显示突出的肥大 II 型肌纤维。基因分析发现 SMN1 突变。这是首例在基因确诊的脊髓性肌萎缩症 III 中观察到的神经源性肌肉肥大报告。
