Burns Joshua, Bray Paula, Cross Lauren A, North Kathryn N, Ryan Monique M, Ouvrier Robert A
Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, New South Wales, Australia.
Neuromuscul Disord. 2008 Dec;18(12):970-3. doi: 10.1016/j.nmd.2008.08.004. Epub 2008 Nov 6.
Charcot-Marie-Tooth disease type 1A (CMT1A), a demyelinating neuropathy characterised by progressive length-dependent muscle weakness and atrophy, is thought to affect the foot and leg first followed some time later by hand weakness and dysfunction. We aimed to characterise hand strength, function and disease-related symptoms in children with CMT1A. Intrinsic and extrinsic hand strength was measured by hand-held dynamometry, function by nine-hole peg test, and disease-related symptoms by interview and examination in 84 affected children aged 2-16 years. Hand weakness and dysfunction was present from the earliest stages of the disease. While hand strength and function measures tended to increase with age throughout childhood, at no point did they reach normal values. Day-to-day hand problems such as poor handwriting, weakness, pain and sensory symptoms also worsened with age. The hand is affected at all ages in children with CMT1A, but may be under-recognised in its early stages, potentially delaying therapy.
1A型腓骨肌萎缩症（CMT1A）是一种脱髓鞘性神经病变，其特征为进行性的长度依赖性肌肉无力和萎缩，该病通常先影响足部和腿部，一段时间后手部出现无力和功能障碍。我们旨在描述CMT1A患儿的手部力量、功能及疾病相关症状。通过手持测力计测量84名2至16岁患童的手部内在肌和外在肌力量，用九孔插板试验评估手部功能，并通过访谈和检查了解疾病相关症状。手部无力和功能障碍在疾病的最早阶段就已出现。虽然在整个儿童期，手部力量和功能指标往往随年龄增长而提高，但从未达到正常水平。日常手部问题，如书写困难、无力、疼痛和感觉症状也随年龄增长而加重。CMT1A患儿在各个年龄段手部均会受到影响，但在疾病早期可能未得到充分认识，从而可能延误治疗。
