Cornett Kayla M D, North Kathryn N, Rose Kristy J, Burns Joshua
Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Arthritis and Musculoskeletal Research Group, Faculty of Health Sciences, The University of Sydney, Sydney, NSW, Australia.
Dev Med Child Neurol. 2015 Aug;57(8):733-6. doi: 10.1111/dmcn.12777. Epub 2015 Apr 23.
To investigate if children with neurofibromatosis type 1 (NF1) have reduced muscle strength compared with children with typical development.
Maximal isometric strength of 15 upper and lower limb muscle groups was evaluated in 30 children with NF1 (16 males, 14 females; aged 4-16y) and 30 age-, sex-, height-, and weight-matched controls using hand-held dynamometry by a single evaluator. Both the left and right sides were assessed.
Children with NF1 were significantly weaker than children with typical development across all 15 muscle groups assessed (p<0.05). Apart from elbow flexion, there were no differences between the left and right sides (p>0.05). Magnitude of differences between the children with NF1 compared with the controls ranged from 3% to 43%. Males and females were equally affected.
This study shows that children with NF1 have reduced muscle strength compared with children with typical development. This muscle weakness is present from the earliest stages of the disease assessed and persists throughout childhood with no sex difference. These results support recent evidence from mouse studies that NF1 is associated with a primary myopathy.
研究1型神经纤维瘤病（NF1）患儿与发育正常儿童相比肌肉力量是否降低。
由一名评估者使用手持测力计，对30名NF1患儿（16名男性，14名女性；年龄4 - 16岁）和30名年龄、性别、身高和体重匹配的对照组儿童的15个上下肢肌肉群的最大等长肌力进行评估。对左右两侧均进行评估。
在评估的所有15个肌肉群中，NF1患儿明显比发育正常儿童虚弱（p<0.05）。除了肘关节屈曲外，左右两侧之间没有差异（p>0.05）。NF1患儿与对照组之间的差异幅度在3%至43%之间。男性和女性受影响程度相同。
本研究表明，与发育正常儿童相比，NF1患儿肌肉力量降低。这种肌肉无力在疾病评估的最早阶段就已出现，并在整个童年期持续存在，无性别差异。这些结果支持了最近小鼠研究的证据，即NF1与原发性肌病有关。
