Mori-Yoshimura Madoka, Oya Yasushi, Yajima Hiroyuki, Yonemoto Naohiro, Kobayashi Yoko, Hayashi Yukiko K, Noguchi Satoru, Nishino Ichizo, Murata Miho
Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Neuromuscul Disord. 2014 May;24(5):380-6. doi: 10.1016/j.nmd.2014.02.008. Epub 2014 Feb 28.
Mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene cause GNE myopathy, a mildly progressive autosomal recessive myopathy. We performed a prospective natural history study in 24 patients with GNE myopathy to select evaluation tools for use in upcoming clinical trials. Patient clinical conditions were evaluated at study entry and one-year follow-up. Of the 24 patients, eight (33.3%) completed a standard 6-min walk test without assistance. No cardiac events were observed. Summed manual muscle testing of 17 muscles, grip power, and percent force vital capacity (%FVC) were significantly reduced (p<0.05), and scores for 6-min walk test and gross motor function measure were decreased (p<0.1) after one year. The decrement in %FVC was significant among non-ambulant patients, whereas the decrement in grip power tended to be greater among ambulant patients. The 6-min walk test, gross motor function measure, manual muscle testing, grip power, and %FVC reflect annual changes and are thus considered good evaluation tools for clinical trials.
氨基葡萄糖（UDP-N-乙酰基）-2-表异构酶/N-乙酰甘露糖胺激酶基因突变会导致GNE肌病，这是一种轻度进行性常染色体隐性肌病。我们对24例GNE肌病患者进行了一项前瞻性自然史研究，以选择用于即将开展的临床试验的评估工具。在研究开始时和随访一年时对患者的临床状况进行了评估。24例患者中，8例（33.3%）在无辅助的情况下完成了标准6分钟步行试验。未观察到心脏事件。17块肌肉的手动肌力总和测试、握力和用力肺活量百分比（%FVC）显著降低（p<0.05），一年后6分钟步行试验和粗大运动功能测量的分数下降（p<0.1）。非步行患者的%FVC下降显著，而步行患者的握力下降往往更大。6分钟步行试验、粗大运动功能测量、手动肌力测试、握力和%FVC反映了年度变化，因此被认为是临床试验的良好评估工具。
