{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T23:34:02Z","timestamp":1782603242484,"version":"3.54.5"},"reference-count":54,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,8,29]],"date-time":"2019-08-29T00:00:00Z","timestamp":1567036800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Diaphragm weakness in Charcot\u2010Marie\u2010Tooth disease 1A (CMT1A) is usually associated with severe disease manifestation. This study comprehensively investigated phrenic nerve conductivity, inspiratory and expiratory muscle function in ambulatory CMT1A patients. Nineteen adults with CMT1A (13 females, 47\u2009\u00b1\u200912\u2009years) underwent spiromanometry, diaphragm ultrasound, and magnetic stimulation of the phrenic nerves and the lower thoracic nerve roots, with recording of diaphragm compound muscle action potentials (dCMAP, n = 15), transdiaphragmatic and gastric pressures (twPdi and twPgas, n = 12). Diaphragm motor evoked potentials (dMEP, n = 15) were recorded following cortical magnetic stimulation. Patients had not been selected for respiratory complaints. Disease severity was assessed using the CMT Neuropathy Scale version 2 (CMT\u2010NSv2). Healthy control subjects were matched for age, sex, and body mass index. The following parameters were significantly lower in CMT1A patients than in controls (all <jats:italic>P<\/jats:italic>\u2009&lt;\u2009.05): forced vital capacity (91\u2009\u00b1\u200916 vs 110\u2009\u00b1\u200915% predicted), maximum inspiratory pressure (68\u2009\u00b1\u200922 vs 88\u2009\u00b1\u200929 cmH<jats:sub>2<\/jats:sub>O), maximum expiratory pressure (91\u2009\u00b1\u200923 vs 123\u2009\u00b1\u200924 cmH<jats:sub>2<\/jats:sub>O), and peak cough flow (377\u2009\u00b1\u2009135 vs 492\u2009\u00b1\u2009130\u2009L\/min). In CMT1A patients, dMEP and dCMAP were delayed. Patients vs controls showed lower diaphragm excursion (5\u2009\u00b1\u20092 vs 8\u2009\u00b1\u20092 cm), diaphragm thickening ratio (DTR, 1.9 [1.6\u20102.2] vs 2.5 [2.1\u20103.1]), and twPdi (8\u2009\u00b1\u20096 vs 19\u2009\u00b1\u20097 cmH<jats:sub>2<\/jats:sub>O; all <jats:italic>P<\/jats:italic>\u2009&lt;\u2009.05). DTR inversely correlated with the CMT\u2010NSv2 score (<jats:italic>r<\/jats:italic> = \u2212.59, <jats:italic>P<\/jats:italic> = .02). There was no group difference in twPgas following abdominal muscle stimulation. Ambulatory CMT1A patients may show phrenic nerve involvement and reduced respiratory muscle strength. Respiratory muscle weakness can be attributed to diaphragm dysfunction alone. It relates to neurological impairment and likely reflects a disease continuum.<\/jats:p>","DOI":"10.1111\/jns.12341","type":"journal-article","created":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T15:11:12Z","timestamp":1565277072000},"page":"283-293","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot\u2010Marie\u2010Tooth disease 1A"],"prefix":"10.1111","volume":"24","author":[{"given":"Jens","family":"Spiesshoefer","sequence":"first","affiliation":[{"name":"Respiratory Physiology Laboratory, Department of Neurology, University of M\u00fcnster  M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolin","family":"Henke","sequence":"additional","affiliation":[{"name":"Respiratory Physiology Laboratory, Department of Neurology, University of M\u00fcnster  M\u00fcnster 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