Literature DB >> 31566774

Respiratory muscle weakness in facioscapulohumeral muscular dystrophy.

Carolin Henke1, Jens Spiesshoefer1, Hans-Joachim Kabitz2, Simon Herkenrath3,4, Winfried Randerath3,4, Tobias Brix5, Dennis Görlich6, Peter Young7, Matthias Boentert1.   

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.
© 2019 The Authors. Muscle & Nerve published by Wiley Periodicals, Inc.

Entities:  

Keywords:  diaphragm ultrasound; facioscapulohumeral muscular dystrophy; phrenic nerve conduction studies; respiratory muscle strength; transdiaphragmatic pressure

Mesh:

Year:  2019        PMID: 31566774     DOI: 10.1002/mus.26717

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN: 0148-639X            Impact factor:   3.217


  7 in total

1.  Exercise Intolerance in Facioscapulohumeral Muscular Dystrophy.

Authors:  Kathryn A Vera; Mary McConville; Aline Glazos; William Stokes; Michael Kyba; Manda Keller-Ross
Journal:  Med Sci Sports Exerc       Date:  2022-02-21

Review 2.  Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update.

Authors:  Teresa Schätzl; Lars Kaiser; Hans-Peter Deigner
Journal:  Orphanet J Rare Dis       Date:  2021-03-12       Impact factor: 4.123

3.  Effects of nasal high flow on nocturnal hypercapnia, sleep, and sympathovagal balance in patients with neuromuscular disorders.

Authors:  Anna Christina Meyer; Jens Spiesshoefer; Nina Christina Siebers; Anna Heidbreder; Christian Thiedemann; Hartmut Schneider; Andrew T Braun; Winfried Randerath; Peter Young; Michael Dreher; Matthias Boentert
Journal:  Sleep Breath       Date:  2020-12-02       Impact factor: 2.816

4.  Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy.

Authors:  Sjan Teeselink; Sanne C C Vincenten; Nicol C Voermans; Jan T Groothuis; Jonne Doorduin; Peter J Wijkstra; Corinne G C Horlings; Baziel G M van Engelen; Karlien Mul
Journal:  J Neurol       Date:  2022-02-11       Impact factor: 4.849

Review 5.  Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials.

Authors:  Mehdi Ghasemi; Charles P Emerson; Lawrence J Hayward
Journal:  Cells       Date:  2022-02-16       Impact factor: 6.600

6.  Long-Term Systemic Treatment of a Mouse Model Displaying Chronic FSHD-like Pathology with Antisense Therapeutics That Inhibit DUX4 Expression.

Authors:  Ngoc Lu-Nguyen; George Dickson; Alberto Malerba; Linda Popplewell
Journal:  Biomedicines       Date:  2022-07-07

Review 7.  Hypoxia and Hypoxia-Inducible Factor Signaling in Muscular Dystrophies: Cause and Consequences.

Authors:  Thuy-Hang Nguyen; Stephanie Conotte; Alexandra Belayew; Anne-Emilie Declèves; Alexandre Legrand; Alexandra Tassin
Journal:  Int J Mol Sci       Date:  2021-07-05       Impact factor: 5.923

  7 in total

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