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Sleep and Breathing

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01-09-2021 | Polysomnography | Sleep Breathing Physiology and Disorders • Original Article

Disorders of sleep in spinal and bulbar muscular atrophy (Kennedy’s disease)

Authors: Lisa Langenbruch, Salvador Perez-Mengual, Christian Glatz, Peter Young, Matthias Boentert

Published in: Sleep and Breathing | Issue 3/2021

Abstract

Introduction

Spinal and bulbar muscular atrophy (SBMA) is a progressive, X-linked lower motor neuron disorder exclusively affecting men. Since knowledge on sleep disorders in SBMA is scarce compared to other motoneuron diseases, this retrospective case-control study aimed to investigate sleep and sleep-related breathing in patients with SBMA.

Methods

In 23 non-ventilated patients with SBMA (median age 52 years), clinical disease characteristics, forced vital capacity and diagnostic polysomnographies were retrospectively evaluated. In 16 patients, overnight transcutaneous capnometry was available. Twenty-three male control subjects with chronic insomnia were matched for age and body mass index.

Results

In patients with SBMA obstructive sleep apnoea (OSA, apnoea-hypopnoea index/AHI > 5/h) was more frequent than in control subjects (14/23 or 61% vs. 6/23 or 26%, p = 0.02), and median AHI was significantly higher in patients (9.0/h vs. 3.4/h, p < 0.01). Among SBMA patients, the AHI was not related to age or body mass index. Alveolar hypoventilation as reflected by nocturnal hypercapnia was found in 3/16 patients. Rapid eye movement (REM) sleep without atonia was present in 44% of SBMA patients but only in 4% of controls (p < 0.01). During REM and non-REM sleep, no behavioural abnormalities were observed in either group. Periodic limb movements in sleep (index > 15/h) were frequent in SBMA patients but rarely disrupted sleep.

Conclusions

In patients with SBMA, sleep-disordered breathing may comprise both OSA and nocturnal hypoventilation. REM sleep without atonia may also be found, but its clinical significance remains unclear. In patients complaining of sleep-related symptoms, cardiorespiratory polysomnography and transcutaneous capnometry are recommended.

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Title: Disorders of sleep in spinal and bulbar muscular atrophy (Kennedy’s disease)
Authors: Lisa Langenbruch
Salvador Perez-Mengual
Christian Glatz
Peter Young
Matthias Boentert
Publication date: 01-09-2021
Publisher: Springer International Publishing
Keyword: Polysomnography
Published in: Sleep and Breathing / Issue 3/2021
Print ISSN: 1520-9512
Electronic ISSN: 1522-1709
DOI: https://doi.org/10.1007/s11325-020-02253-4

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