Department of Neurology, Martin-Luther University Halle-Wittenberg, Halle/Saale, Germany.
J Neurol. 2011 May;258(5):866-73. doi: 10.1007/s00415-010-5858-z. Epub 2010 Dec 17.
Recently it has been postulated that there is an atypical facioscapulohumeral muscular dystrophy (FSHD) phenotype with isolated axial myopathy. Involvement of paraspinal and limb muscles was evaluated in six patients with molecularly proven FSHD and a predominant bent spine phenotype. Consistent with the camptocormia phenotype, the most severely affected muscles in all six patients were the thoracic and lumbar spinal tract together with hamstrings. MRI disclosed severe axial muscle degeneration but mostly subclinical involvement of limb muscles. The involvement of hip extensor muscles in FSHD might considerably contribute to the clinical phenotype of camptocormia due to axial muscle involvement.
最近有人提出，有一种不典型的面肩肱型肌营养不良症（FSHD）表型，其特征为单纯的轴向肌病。在 6 名分子确诊的 FSHD 患者中，评估了具有主要弯曲脊柱表型的患者的脊柱旁和肢体肌肉的受累情况。与驼背表型一致，所有 6 名患者中受影响最严重的肌肉是胸腰椎和股四头肌。MRI 显示严重的轴向肌肉退化，但主要是肢体肌肉的亚临床受累。由于轴向肌肉受累，FSHD 中髋外展肌的受累可能对驼背的临床表型有很大的影响。
