Lisa Langenbruch1, Salvador Perez-Mengual1, Christian Glatz1, Peter Young2, Matthias Boentert3,4. 1. Department of Neurology with Institute of Translational Neurology, University Hospital Münster (UKM), Albert-Schweitzer-Campus 1, A1, 48149, Münster, Germany. 2. Department of Neurology, Medical Park Bad Feilnbach, Bad Feilnbach, Germany. 3. Department of Neurology with Institute of Translational Neurology, University Hospital Münster (UKM), Albert-Schweitzer-Campus 1, A1, 48149, Münster, Germany. matthias.boentert@ukmuenster.de. 4. Department of Medicine, UKM Marienhospital Steinfurt, Steinfurt, Germany. matthias.boentert@ukmuenster.de.
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.
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.
Authors: Richard B Berry; Rohit Budhiraja; Daniel J Gottlieb; David Gozal; Conrad Iber; Vishesh K Kapur; Carole L Marcus; Reena Mehra; Sairam Parthasarathy; Stuart F Quan; Susan Redline; Kingman P Strohl; Sally L Davidson Ward; Michelle M Tangredi Journal: J Clin Sleep Med Date: 2012-10-15 Impact factor: 4.062
Authors: Pietro Fratta; Niranjanan Nirmalananthan; Luc Masset; Iwona Skorupinska; Toby Collins; Andrea Cortese; Sally Pemble; Andrea Malaspina; Elizabeth M C Fisher; Linda Greensmith; Michael G Hanna Journal: Neurology Date: 2014-05-09 Impact factor: 9.910