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Sleep and Breathing

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01-09-2019 | Non-Invasive Ventilation | Neurology • Original Article

Sleep-related breathing disorders in facioscapulohumeral dystrophy

Authors: Maya Runte, Jens Spiesshoefer, Anna Heidbreder, Michael Dreher, Peter Young, Tobias Brix, Matthias Boentert

Published in: Sleep and Breathing | Issue 3/2019

Abstract

Purpose

Severe manifestations of facioscapulohumeral dystrophy (FSHD) may be associated with sleep-disordered breathing (SDB), including obstructive sleep apnea (OSA) and nocturnal hypoventilation (NH), but prevalence data are scarce. In patients with respiratory muscle weakness, detection of NH can be facilitated by transcutaneous capnometry, but respective data derived from FSHD patients have not yet been published.

Methods

We collected sleep studies and capnometry recordings from 31 adult patients with genetically confirmed FSHD who were admitted to our sleep laboratory for first-ever evaluation of sleep-related breathing. Indications for admission included non-restorative sleep, morning headache, or excessive daytime sleepiness. In addition, sleep studies were initiated if symptoms or signs of respiratory muscle weakness were present. Thirty-one subjects with insomnia served as controls for comparison of respiratory measures during sleep.

Results

In the FSHD group, 17/31 (55%) patients showed OSA and 8 (26%) had NH. NH would have been missed in 7/8 patients if only oximetry criteria of hypoventilation had been applied. Capnography results were correlated with disease severity as reflected by the Clinical Severity Score (CSS). Non-invasive ventilation (NIV) was started in 6 patients with NH and 3 individuals with OSA. Nocturnal continuous positive airway pressure was administered to 2 patients, and positional therapy was sufficient in 4 individuals. In patients initiated on NIV, nocturnal gas exchange already improved in the first night of treatment.

Conclusions

SDB is common in adult patients with FSHD complaining of sleep-related symptoms. It may comprise OSA, NH, and most often, the combination of both. Sleep-related hypercapnia is associated with disease severity. Transcutaneous capnometry is superior to pulse oximetry for detection of NH.

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Title: Sleep-related breathing disorders in facioscapulohumeral dystrophy
Authors: Maya Runte
Jens Spiesshoefer
Anna Heidbreder
Michael Dreher
Peter Young
Tobias Brix
Matthias Boentert
Publication date: 01-09-2019
Publisher: Springer International Publishing
Keyword: Non-Invasive Ventilation
Published in: Sleep and Breathing / Issue 3/2019
Print ISSN: 1520-9512
Electronic ISSN: 1522-1709
DOI: https://doi.org/10.1007/s11325-019-01843-1

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