{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T01:48:04Z","timestamp":1782524884325,"version":"3.54.5"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,12,6]],"date-time":"2002-12-06T00:00:00Z","timestamp":1039132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Fundaci\u00f3n \u201cLa Caixa\u201d","award":["98\/017-00"],"award-info":[{"award-number":["98\/017-00"]}]},{"name":"Fondo de Investigaci\u00f3n Sanitaria","award":["99\/0046-01"],"award-info":[{"award-number":["99\/0046-01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2003,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The aim of this study was to describe the initial signs and symptoms in Charcot\u2013Marie\u2013Tooth disease type 1A (CMT\u20101A). Twelve secondary cases with CMT\u20101A 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\u20101A 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. Muscle Nerve 27: 34\u201339, 2003<\/jats:p>","DOI":"10.1002\/mus.10299","type":"journal-article","created":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T02:24:07Z","timestamp":1041387847000},"page":"34-39","source":"Crossref","is-referenced-by-count":52,"title":["Initial semeiology in children with Charcot\u2013Marie\u2013Tooth disease 1A duplication"],"prefix":"10.1002","volume":"27","author":[{"given":"Jos\u00e9","family":"Berciano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onofre","family":"Combarros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,12,6]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880120408"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00114-5"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.5.813"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90004-7"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1987.tb07882.x"},{"key":"e_1_2_6_7_2","series-title":"Handbook of clinical neurology","first-page":"271","author":"De Recondo J","year":"1975"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.10.1302"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.55.10.895"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(92)90282-P"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.4.1061"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880060708"},{"key":"e_1_2_6_13_2","first-page":"317","article-title":"The pathogenesis and surgical treatment of foot deformity in Charcot\u2013Marie\u2013Tooth disease","volume":"5","author":"Guyton GP","year":"2000","journal-title":"Foot Ankle"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310518"},{"key":"e_1_2_6_15_2","volume-title":"The hereditary ataxias and related disorders","author":"Harding AE","year":"1984"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/103.2.259"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3"},{"key":"e_1_2_6_18_2","first-page":"1","volume-title":"Current neurology","author":"Lupski JR","year":"1991"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90613-4"},{"key":"e_1_2_6_20_2","first-page":"221","article-title":"Pathophysiology of Charcot\u2013Marie\u2013Tooth disease","volume":"234","author":"Mann RA","year":"1988","journal-title":"Clin Orthop"},{"key":"e_1_2_6_21_2","first-page":"92","article-title":"Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17","volume":"46","author":"Middleton\u2010Price HR","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.4.547"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/110.1.121"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90055-W"},{"key":"e_1_2_6_25_2","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1097\/00003086-198305000-00025","article-title":"Pathogenesis of pes cavus in Charcot\u2013Marie\u2013Tooth disease","volume":"175","author":"Sabir M","year":"1983","journal-title":"Clin Orthop"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.3.465"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880040106"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(89)90243-8"}],"container-title":["Muscle &amp; 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