Universität zu Köln

Spiesshoefer, Jens ORCID: 0000-0001-8205-1749, Henke, Carolin, Kabitz, Hans-Joachim ORCID: 0000-0002-0080-7125, Akova-Oeztuerk, Esra, Draeger, Bianca, Herkenrath, Simon, Randerath, Winfried, Young, Peter, Brix, Tobias and Boentert, Matthias ORCID: 0000-0001-6133-1397 (2019). Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot-Marie-Tooth disease 1A. J. Peripher. Nerv. Syst., 24 (3). S. 283 - 294. HOBOKEN: WILEY. ISSN 1529-8027

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Abstract

Diaphragm weakness in Charcot-Marie-Tooth 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 +/- 12 years) 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-NSv2). 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 P < .05): forced vital capacity (91 +/- 16 vs 110 +/- 15% predicted), maximum inspiratory pressure (68 +/- 22 vs 88 +/- 29 cmH(2)O), maximum expiratory pressure (91 +/- 23 vs 123 +/- 24 cmH(2)O), and peak cough flow (377 +/- 135 vs 492 +/- 130 L/min). In CMT1A patients, dMEP and dCMAP were delayed. Patients vs controls showed lower diaphragm excursion (5 +/- 2 vs 8 +/- 2 cm), diaphragm thickening ratio (DTR, 1.9 [1.6-2.2] vs 2.5 [2.1-3.1]), and twPdi (8 +/- 6 vs 19 +/- 7 cmH(2)O; all P < .05). DTR inversely correlated with the CMT-NSv2 score (r = -.59, P = .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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Spiesshoefer, Jens UNSPECIFIED orcid.org/0000-0001-8205-1749 UNSPECIFIED Henke, Carolin UNSPECIFIED UNSPECIFIED UNSPECIFIED Kabitz, Hans-Joachim UNSPECIFIED orcid.org/0000-0002-0080-7125 UNSPECIFIED Akova-Oeztuerk, Esra UNSPECIFIED UNSPECIFIED UNSPECIFIED Draeger, Bianca UNSPECIFIED UNSPECIFIED UNSPECIFIED Herkenrath, Simon UNSPECIFIED UNSPECIFIED UNSPECIFIED Randerath, Winfried UNSPECIFIED UNSPECIFIED UNSPECIFIED Young, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Brix, Tobias UNSPECIFIED UNSPECIFIED UNSPECIFIED Boentert, Matthias UNSPECIFIED orcid.org/0000-0001-6133-1397 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-143777
DOI:	10.1111/jns.12341
Journal or Publication Title:	J. Peripher. Nerv. Syst.
Volume:	24
Number:	3
Page Range:	S. 283 - 294
Date:	2019
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1529-8027
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MAGNETIC STIMULATION; SENSORY NEUROPATHY; HEREDITARY MOTOR; PULMONARY-FUNCTION; NATURAL-HISTORY; SLEEP-APNEA; DIAPHRAGM; ULTRASOUND; FAILURE; RELIABILITY Multiple languages Clinical Neurology; Neurosciences Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/14377