From the T.Y. Nelson Department of Neurology and Neurosurgery (M.K., M.P.M.) and Institute for Neuroscience and Muscle Research (K.C., J.B., M.P.M.), The Children's Hospital at Westmead; University of Sydney (K.C., M.H.B., G.A.N., H.K.Y., M.L.K., J.B., M.P.M.); Northcott Neuroscience Laboratory (M.H.B., G.A.N., M.L.K.), ANZAC Research Institute, Concord; Molecular Medicine Laboratory (G.A.N., M.L.K.), Concord Repatriation General Hospital, New South Wales; Department of Neurology (M.M.R.), Royal Children's Hospital; Murdoch Children's Research Institute (M.M.R.); Department of Paediatrics (M.M.R.), University of Melbourne, Parkville, Victoria; Department of Neurology (R.L.S., G.M.S.), John Hunter Children's Hospital, and University Faculty of Health, Newcastle; Department of Paediatrics (H.K.Y.), Royal North Shore Hospital, St. Leonards, New South Wales, Australia; Department of Human Genetics (S.Z.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL; and Paediatric Gait Analysis Service of New South Wales (J.B.), Sydney Children's Hospitals Network (Randwick and Westmead), Australia.
Neurology. 2018 May 8;90(19):e1706-e1710. doi: 10.1212/WNL.0000000000005479. Epub 2018 Apr 6.
To describe in detail the clinical profile of Charcot-Marie-Tooth disease subtype 3 (CMTX3) to aid appropriate genetic testing and rehabilitative therapy.
We reviewed the clinical and neurophysiologic profile and CMT Pediatric Scale (CMTPedS) assessments of 11 children with CMTX3.
Compared with the more common forms of CMT, CMT1A and CMTX, CMTX3 was characterized by early onset with early and progressive hand weakness. Most affected children were symptomatic within the first 2 years of life. The most common presentation was foot deformity in the first year of life. CMTPedS analysis in these children revealed that CMTX3 progressed more rapidly (4.3 ± 4.1 points over 2 years, n = 7) than CMT1A and CMTX1. Grip strength in affected boys was 2 SDs below age- and sex-matched normative reference values ( score -2.05 ± 1.32) in the second decade of life. The most severely affected individual was wheelchair bound at 14 years of age, and 2 individuals had no movement in the small muscles of the hand in the second decade of life. Nerve conduction studies showed a demyelinating sensorimotor neuropathy with motor conduction velocity ≤23 m/s.
CMTX3 had an earlier onset, severe hand weakness, and more rapidly progressive disability compared to the more common forms of CMT. Understanding the unique phenotype of CMTX3 is essential for directing genetic testing because the CMTX3 insertion will not be seen on a routine microarray or neuromuscular gene panel. Early diagnosis will enable rehabilitation to be started early in this rapidly progressive neuropathy.
详细描述腓骨肌萎缩症 3 型（CMTX3）的临床特征，以辅助进行适当的基因检测和康复治疗。
我们回顾了 11 例 CMTX3 患儿的临床和神经生理特征以及小儿腓骨肌萎缩症量表（CMTPedS）评估结果。
与更为常见的 CMT 类型 CMT1A 和 CMTX 相比，CMTX3 的特征为发病早且进行性手肌无力。大多数受影响的儿童在生命的前 2 年内出现症状。最常见的表现是出生后第 1 年出现足部畸形。这些患儿的 CMTPedS 分析显示，CMTX3 进展更快（7 例患儿 2 年内进展 4.3±4.1 分），高于 CMT1A 和 CMTX1。受影响男孩的握力在生命的第二个十年中低于年龄和性别匹配的正常参考值 2 个标准差（得分-2.05±1.32）。病情最严重的患儿在 14 岁时已需坐轮椅，2 例患儿在生命的第二个十年中手部小肌肉已无运动功能。神经传导研究显示脱髓鞘感觉运动神经病，运动传导速度≤23m/s。
与更为常见的 CMT 类型相比，CMTX3 的发病更早，手肌无力更严重，且残疾进展更快。了解 CMTX3 的独特表型对于指导基因检测至关重要，因为常规微阵列或神经肌肉基因面板不会发现 CMTX3 的插入。早期诊断可使这种快速进展性神经病的康复治疗尽早开始。
