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

  • Sleep Breathing Physiology and Disorders • Original Article
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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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Data availability

Original data were accessible to all authors. Further details can be requested from the corresponding author.

Abbreviations

AHI:

apnoea-hypopnoea index

ALS:

amyotrophic lateral sclerosis

BMI:

body mass index

CO2 :

carbon dioxide

COLD:

chronic obstructive lung disease

CPAP:

continuous positive airway pressure

ESS:

Epworth Sleepiness Scale

N3:

slow-wave sleep

ODI:

oxygen desaturation index

OSA:

obstructive sleep apnoea

PLM:

periodic limb movements

PLMI:

periodic limb movement index

PLMS:

period limb movements in sleep

PSG:

polysomnography

ptcCO2 :

transcutaneous CO2 tension

RBD:

REM sleep behaviour disorder

REM:

rapid eye movement sleep

RSWA:

REM sleep without atonia

SBMA:

spinal and bulbar muscular atrophy

SDB:

sleep-disordered breathing

SMA:

spinal muscular atrophy

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Author information

Authors and Affiliations

  1. Department of Neurology with Institute of Translational Neurology, University Hospital Münster (UKM), Albert-Schweitzer-Campus 1, A1, 48149, Münster, Germany

    Lisa Langenbruch, Salvador Perez-Mengual, Christian Glatz & Matthias Boentert

  2. Department of Neurology, Medical Park Bad Feilnbach, Bad Feilnbach, Germany

    Peter Young

  3. Department of Medicine, UKM Marienhospital Steinfurt, Steinfurt, Germany

    Matthias Boentert

Authors
  1. Lisa Langenbruch
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  2. Salvador Perez-Mengual
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  3. Christian Glatz
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  4. Peter Young
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  5. Matthias Boentert
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Contributions

LL analysed the data and wrote the initial draft of the manuscript. SPM and LL reviewed sleep study recordings. CG specifically analysed sleep-related breathing and behaviour during REM sleep. MB and PY designed the study, reviewed the data analyses and critically revised the manuscript. All authors have seen and approved the final version of the manuscript.

Corresponding author

Correspondence to Matthias Boentert.

Ethics declarations

Conflict of interest

LL, CG and SPM declare no competing interests. PY received honoraria from UCB, Sanofi-Genzyme, VANDA, Medice, Löwenstein Medical, ResMed and Bioprojet for speaker’s bureaus. He received honoraria for advisory boards from Sanofi-Genzyme and Pharnext. MB received speaker honoraria and financial research support by Sanofi-Genzyme, Löwenstein Medical and UCB (speaker honoraria only).

Ethics approval

This retrospective study was based on data derived from routine clinical care and was approved by the local ethics committee. This article does not report the results of a clinical trial.

Code availability

Not applicable.

Additional information

Comment

The paper has indisputable scientific relevance and warns of the need to carefully evaluate the respiratory and sleep aspects of patients with Kennedy’s disease.

Luciana Moraes Studart-Pereira

Brazil

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Langenbruch, L., Perez-Mengual, S., Glatz, C. et al. Disorders of sleep in spinal and bulbar muscular atrophy (Kennedy’s disease). Sleep Breath 25, 1399–1405 (2021). https://doi.org/10.1007/s11325-020-02253-4

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  • DOI: https://doi.org/10.1007/s11325-020-02253-4

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