Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Faculty of Physical Therapy and Rehabilitation, Hacettepe University, Ankara, Turkey.
J Paediatr Child Health. 2022 Nov;58(11):1997-2002. doi: 10.1111/jpc.16133. Epub 2022 Jul 23.
Muscle weakness, fatigue and speech problems can occur in neurofibromatosis type 1 (NF1). The pathogenesis of these symptoms is unclear, likely multifactorial. We examined motor function in limb and speech muscles in NF1 patients.
We evaluated NF1 and control groups aged 4-18 years for muscle strength, tone and mobility using standard manual testing, joint motion and Beighton score measurements. Speech and language functions were assessed by speech articulation and resonance. As a marker of muscle tissue turnover, we determined collagen degradation products in urine before and after submaximal exercise.
NF1 patients had reduced strength in proximal limb muscles compared to control subjects. Speech articulation problems and hypernasality were more common in NF1 (47% and 38%, respectively). Collagen products excreted in urine correlated with gluteal and biceps muscle strength.
Muscle dysfunction can be detected in some children with NF1 and may explain certain clinical features including fatigue, speech and articulation problems. If confirmed by further research, these findings may be relevant to the management of this condition.
神经纤维瘤病 1 型（NF1）可出现肌肉无力、疲劳和言语问题。这些症状的发病机制尚不清楚，可能是多因素的。我们研究了 NF1 患者四肢肌肉和言语肌肉的运动功能。
我们评估了年龄在 4-18 岁的 NF1 组和对照组患者的肌肉力量、张力和运动情况，采用标准的手动测试、关节运动和 Beighton 评分测量。通过言语清晰度和共鸣评估言语和语言功能。作为肌肉组织转换的标志物，我们在亚最大运动量前后测定尿液中的胶原降解产物。
与对照组相比，NF1 患者的近端肢体肌肉力量降低。NF1 患者更常出现言语发音问题和鼻共鸣过度（分别为 47%和 38%）。尿液中排出的胶原产物与臀肌和肱二头肌力量相关。
一些 NF1 患儿可检测到肌肉功能障碍，这可能解释了某些临床特征，包括疲劳、言语和发音问题。如果进一步的研究得到证实，这些发现可能与该疾病的管理相关。
