Initial semeiology in children with Charcot-Marie-Tooth disease 1A duplication
Initial semeiology in children with Charcot-Marie-Tooth disease 1A duplication
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DOI：
10.1002/mus.10299
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发表时间：
2003-01-01
期刊：
影响因子：
3.4
通讯作者：
Combarros, O
中科院分区：
文献类型：
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作者：
Berciano, J;García, A;Combarros, O
本研究的目的是描述Charcot-Marie-Tooth病1A型（CMT-1A）的初始体征和症状，对12例CMT-1A继发病例进行了系列评价，初始临床检查的年龄为1个月至5岁（平均2岁），最终年龄为6至23岁（平均13岁）。在所有12名年龄在1至10岁（中位数，4岁）的患者中，在初始或系列检查时检测到疾病的最初体征。最常见的体征为下肢无反射12例，足跟行走困难8例，神经增粗6例，足内肌萎缩6例，足趾抓爪5例，弓足或弓足内翻4例，跟腱缩短3例，腓骨肌无力1例，袜感觉减退1例。只有3名患者在初始评估时有症状。我们的结论是，最初的CMT-1A迹象通常出现在幼儿期，虽然他们可能是相当微妙的，需要一系列的检查检测。下肢无反射是唯一不变的早期体征。
The aim of this study was to describe the initial signs and symptoms in Charcot-Marie-Tooth disease type 1A (CMT-1A), Twelve secondary cases with CMT-1A were serially evaluated, Ages at initial clinical examination ranged between 1 month and 5 years (mean, 2 years) and final ages between 6 and 23 years (mean, 13 years). First signs of the disease were detected at initial or upon serial examinations in all 12 patients at ages ranging between 1 and 10 years (median, 4 years). The most frequent signs were lower limb areflexia in 12, difficulty in heel walking in 8, nerve enlargement in 6, atrophy of intrinsic foot muscles in 6, clawing of toes in 5, pes cavus or cavus varus in 4, shortening of Achilles tendon in 3, peroneal weakness in 1, and stocking hypoesthesia in 1. Only three patients were symptomatic at the initial evaluation. We conclude that initial CMT-1A signs usually appear in early childhood, although they may be quite subtle and require serial examinations for detection. Lower limb areflexia is the only constant early sign.