Respiratory muscle weakness in facioscapulohumeral muscular dystrophy. Issue 6 (23rd October 2019)

• Record Type: Journal Article
• Authors: Henke, Carolin; Spiesshoefer, Jens; Kabitz, Hans‐Joachim; Herkenrath, Simon; Randerath, Winfried; Brix, Tobias; Görlich, Dennis; Young, Peter; Boentert, Matthias
• Is Part Of: Muscle & nerve. Volume 60:Issue 6(2019)
• Page Start: 679
• Page End: 686
• Publication Date: 2019-10-23
• Subjects: diaphragm ultrasound -- facioscapulohumeral muscular dystrophy -- phrenic nerve conduction studies -- respiratory muscle strength -- transdiaphragmatic pressure; Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.26717
• Languages: English
• ISSNs: 0148-639X

Abstract

Abstract: Introduction: The purpose of this study was to comprehensively evaluate respiratory muscle function in adults with facioscapulohumeral muscular dystrophy (FSHD). Methods: Fourteen patients with FSHD (9 men, 53 ± 16 years of age) and 14 matched controls underwent spirometry, diaphragm ultrasound, and measurement of twitch gastric and transdiaphragmatic pressures (twPgas and twPdi; n = 10) after magnetic stimulation of the lower thoracic nerve roots and the phrenic nerves. The latter was combined with recording of diaphragm compound muscle action potentials (CMAPs; n = 14). Results: The following parameters were significantly lower in patients vs controls: forced vital capacity (FVC); maximum inspiratory and expiratory pressure; peak cough flow; diaphragm excursion amplitude; and thickening ratio on ultrasound, twPdi (11 ± 5 vs 20 ± 6 cmH2 O) and twPgas (7 ± 3 vs 25 ± 20 cmH2 O). Diaphragm CMAP showed no group differences. FVC correlated inversely with the clinical severity scale score ( r = −0.63, P = .02). Discussion: In FSHD, respiratory muscle weakness involves both the diaphragm and the expiratory abdominal muscles.