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Updated: Jan 18, 2026

Repeated Measurement of Respiratory Muscle Activity and Ventilation in Mouse Models of Neuromuscular Disease
Published on: April 17, 2017
Respiratory muscle weakness in facioscapulohumeral muscular dystrophy
Carolin Henke1, Jens Spiesshoefer1, Hans-Joachim Kabitz2
1Respiratory Physiology Laboratory, Department of Neurology with Institute of Translational Neurology, University of Münster, Münster, Germany.
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.
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