Centre de référence des Maladies Neuromusculaires, CHU Lille, Lille, France; Service de Neurologie pédiatrique, CHU Lille, France.
Service de Neurophysiologie clinique, CHU Lille, Lille, France.
Neurophysiol Clin. 2022 Nov;52(6):482-485. doi: 10.1016/j.neucli.2022.09.007. Epub 2022 Oct 15.
Charcot-Marie-Tooth disease type 1A (CMT1A) is related to PMP22 gene duplication. It is characterized at electrodiagnostic testing (EDX) by diffuse homogeneous signs of demyelination, such as velocity slowing and prolonged distal latencies. These abnormalities are less pronounced in infants under two years old, and the possibility of normal nerve conduction studies (NCS) in infants with CMT1A under one year of age has been questioned. We report three infants who displayed normal or almost normal NCS. EDX abnormalities in CMT1A patients may therefore appear late during development. This may affect early EDX diagnosis in infants and should be considered for upcoming clinical trials.
遗传性运动感觉神经病 1A 型（CMT1A）与 PMP22 基因重复相关。电诊断检查（EDX）的特点是存在弥漫性均一的脱髓鞘表现，如速度减慢和远端潜伏期延长。这些异常在两岁以下婴儿中不太明显，并且一岁以下 CMT1A 婴儿神经传导研究（NCS）正常的可能性曾受到质疑。我们报告了 3 例表现为正常或几乎正常 NCS 的婴儿。因此，CMT1A 患者的 EDX 异常可能在发育过程中较晚出现。这可能会影响婴儿的早期 EDX 诊断，应在即将进行的临床试验中考虑这一点。
