Neuromuskuläre Erkrankungen und Schlaf

Zusammenfassung

Viele neuromuskuläre Erkrankungen (NME) sind mit Begleitsymptomen verbunden, die den Schlaf und die Schlafqualität beeinträchtigen. Schlafstörungen können eine unspezifische Folge der Immobilisierung darstellen, aber besonders bei Erkrankungen des peripheren Nervensystems auch auf nächtliche Crampi oder ein Restless-legs-Syndrom zurückzuführen sein. Motoneuronerkrankungen, akute Immunneuropathien und viele Myopathien können im Verlauf mit einer relevanten Schwäche der Atemmuskulatur einhergehen, die sich initial als schlafbezogene Hypoventilation manifestiert und bis zur hyperkapnischen respiratorischen Insuffizienz voranschreiten kann. Zahlreiche Erkrankungen sind zudem mit einem erhöhten Risiko für eine obstruktive Schlafapnoe assoziiert. Schlafbezogene Symptome sind bei NME häufig und sollten gezielt erfragt werden, um eine geeignete Diagnostik und Therapie zu ermöglichen.

Abstract

Many neuromuscular disorders (NMD) are associated with symptoms that affect sleep and sleep quality. Sleep disturbances can be unspecifically caused by immobilization or pain, but also by nocturnal leg cramps or secondary restless legs syndrome in peripheral neuropathies, in particular. Motor neuron disease, acute immune neuropathies, and many myopathies often lead to significant respiratory muscle weakness, which initially presents as sleep-related hypoventilation and may exacerbate to hypercapnic respiratory failure. Many conditions are associated with an increased risk for obstructive sleep apnea. Sleep-related symptoms are common in NMD and should be specifically sought in order to take adequate diagnostic and therapeutic measures.

Schlüsselwörter

Neuromuskuläre Erkrankungen - Schlaf - Schlafstörungen - Schlafapnoe - Hypoventilation

Key words

Neuromuscular disorders - sleep - sleep disorders - sleep apnea - hypoventilation

• Literatur

• 1 Deenen JC. et al. The Epidemiology of Neuromuscular Disorders: A Comprehensive Overview of the Literature. J Neuromuscul Dis 2015; 2 (Suppl. 01) 73-85.
• 2 American Academy of Sleep Medicine.. International Classification of Sleep Disorders IL: American Academy of Sleep Medicine rel-DacmW. No Title. 2014
• 3 Naylor JR, Young JB. A general population survey of rest cramps. Age Ageing 1994; 23 (Suppl. 05) 418-20.
• 4 Daniell HW, Pentrack J. Improved calf stretch for nocturnal cramp prevention. JAMA Intern Med 2013; 173 (Suppl. 10) 934-5.
• 5 Blyton F. et al. Non-drug therapies for lower limb muscle cramps. The Cochrane database of systematic reviews 2012; 1: CD008496.
• 6 Weiss MD. et al. A randomized trial of mexiletine in ALS. Neurology 2016; 86: 1474-81.
• 7 Gemignani F. et al. Restless legs syndrome in diabetic neuropathy: a frequent manifestation of small fiber neuropathy. Journal of the peripheral nervous system: JPNS 2007; 12 (Suppl. 01) 50-3.
• 8 Gemignani F. et al. Cryoglobulinaemic neuropathy manifesting with restless legs syndrome. Journal of the neurological sciences 1997; 152 (Suppl. 02) 218-23.
• 9 Gemignani F. et al. Charcot-Marie-Tooth disease type 2 with restless legs syndrome. Neurology 1999; 52 (Suppl. 05) 1064-6.
• 10 Hattan E, Chalk C, Postuma RB. Is there a higher risk of restless legs syndrome in peripheral neuropathy?. Neurology 2009; 72 (Suppl. 11) 955-60.
• 11 Gemignani F, Vitetta F. Sensory profile in primary restless legs syndrome and restless legs syndrome associated with small fibre neuropathy. Brain 2011; 134 Pt 4 e167.
• 12 Hogl B. et al. Restless legs syndrome: a community-based study of prevalence, severity, and risk factors. Neurology 2005; 64 (Suppl. 11) 1920-4.
• 13 Boentert M, Knop K, Schuhmacher C, Gess B, Okegwo A, Young P. Sleep disorders in Charcot-Marie-Tooth disease type 1. Journal of neurology, neurosurgery, and psychiatry 2014; 85 (Suppl. 03) 319-25.
• 14 Aurora RN. et al. The treatment of restless legs syndrome and periodic limb movement disorder in adults-an update for 2012: practice parameters with an evidence-based systematic review and meta-analyses: an american academy of sleep medicine clinical practice guideline. Sleep 2012; 35 (Suppl. 08) 1039-62.
• 15 Aurora RN. et al. Update to the AASM Clinical Practice Guideline: “The treatment of restless legs syndrome and periodic limb movement disorder in adults-an update for 2012: practice parameters with an evidence-based systematic review and meta-analyses”. Sleep 2012; 35 (Suppl. 08) 1037.
• 16 Anguelova GV, Vlak MHM, Kurvers AGY, Rijsman RM. Pharmacologic and Nonpharmacologic Treatment of Restless Legs Syndrome. Sleep Med Clin 2018; 13 (Suppl. 02) 219-30.
• 17 Akamine RT. et al. Treatment of sleep central apnea with non-invasive mechanical ventilation with 2 levels of positive pressure (bilevel) in a patient with myotonic dystrophy type 1. Sleep Sci 2014; 7 (Suppl. 02) 117-21.
• 18 Bianchi ML. et al. Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. Sleep & breathing = Schlaf & Atmung 2014; 18 (Suppl. 03) 579-89.
• 19 Sekijima Y, Morita H, Hashimoto T, Yamazaki M, Yanagisawa N. Sleep apnoea of central origin in a case of myotonic dystrophy. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 1998; 5 (Suppl. 01) 112-5.
• 20 Ramezani RJ, Stacpoole PW. Sleep disorders associated with primary mitochondrial diseases. JCSM 2014; 10 (Suppl. 11) 1233-9.
• 21 Sakaue S. et al. A case of diabetes, deafness, cardiomyopathy, and central sleep apnea: novel mitochondrial DNA polymorphisms. Tohoku J Exp Med 2002; 196 (Suppl. 03) 203-11.
• 22 de Carvalho M. et al. Motor neuron disease presenting with respiratory failure. Journal of the neurological sciences 1996; 139 Suppl: 117-22.
• 23 Osanai S, Akiba Y, Nakano H, Matsumoto H, Yahara O, Onodera S. Ch-arcot-Marie-Tooth disease with diaphragmatic weakness. Intern Med 1992; 31 (Suppl. 11) 1267-70.
• 24 Hukins CA, Hillman DR. Daytime predictors of sleep hypoventilation in Duchenne muscular dystrophy. American journal of respiratory and critical care medicine 2000; 161 (Suppl. 01) 166-70.
• 25 Laberge L, Begin P, Montplaisir J, Mathieu J. Sleep complaints in patients with myotonic dystrophy. J Sleep Res 2004; 13 (Suppl. 01) 95-100.
• 26 Mellies U, Ragette R, Schwake C, Baethmann M, Voit T, Teschler H. Sleep-disordered breathing and respiratory failure in acid maltase deficiency. Neurology 2001; 57 (Suppl. 07) 1290-5.
• 27 Berger KI RDM, Ayappa I, Goldring RM. Pathophysiology of hypoventilation during sleep. Sleep Med Clin 2014; 9: 289-300.
• 28 Ogna A, Quera Salva MA, Prigent H, Mroue G, Vaugier I, Annane D. et al. Nocturnal hypoventilation in neuromuscular disease: prevalence according to different definitions issued from the literature. Sleep & breathing = Schlaf & Atmung 2016; 20 (Suppl. 02) 575-81.
• 29 Windisch W, Walterspacher S, Siemon K, Geiseler J, Sitter H. Guidelines for non-invasive and invasive mechanical ventilation for treatment of chronic respiratory failure. Published by the German Society for Pneumology (DGP). Pneumologie 2010; 64 (Suppl. 10) 640-52.
• 30 ATS/ERS Statement on respiratory muscle testing. American journal of respiratory and critical care medicine 2002; 166 (Suppl. 04) 518-624.
• 31 Ambrosino NCN, Gherardi M. Chronic respiratory care for neuromu-scular diseases in adults. The European respiratory journal 2009; 34: 444-51.
• 32 Cohen CA ZG, Gross D, Roussos C, Macklem PT. Clinical manifestations of inspiratory muscle fatigue. The American journal of medicine 1982; 73 (Suppl. 03) 308-16.
• 33 Ragette R, Mellies U, Schwake C, Voit T, Teschler H. Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax 2002; 57 (Suppl. 08) 724-8.
• 34 Toussaint M, Steens M, Soudon P. Lung function accurately predicts hypercapnia in patients with Duchenne muscular dystrophy. Chest 2007; 131 (Suppl. 02) 368-75.
• 35 Baumann F. et al. Use of respiratory function tests to predict survival in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2010; 11 1-2 194-202.
• 36 Czaplinski A, Yen AA, Appel SH. Forced vital capacity (FVC) as an indicator of survival and disease progression in an ALS clinic population. Journal of neurology, neurosurgery, and psychiatry 2006; 77 (Suppl. 03) 390-2.
• 37 Evans JA, Whitelaw WA. The assessment of maximal respiratory mouth pressures in adults. Respiratory care 2009; 54 (Suppl. 10) 1348-59.
• 38 Bach JR, Saporito LR. Criteria for extubation and tracheostomy tube removal for patients with ventilatory failure. A different approach to weaning. Chest 1996; 110 (Suppl. 06) 1566-71.
• 39 Kushida CA, Littner MR, Morgenthaler T, Alessi CA, Bailey D, Coleman Jr. J. et al. Practice parameters for the indications for polysomnogra-phy and related procedures: an update for 2005. Sleep 2005; 28 (Suppl. 04) 499-521.
• 40 Berry RB BR, Gamaldo CE, Harding SM, Lloyd RM, Marcus CL, and Vaughn BV. for the American Academy of Sleep Medicine.. The AASM Manual for the Scoring of Sleep and Associated Events: Rules, Terminology and Technical Specifications. Version 2.2. . Darien, Illinois: American Academy of Sleep Medicine. http://www.aasmnet.org 2015
• 41 Gerlach M, Sanner B. [Sleep disorders: principles, basic diagnostics and elementary measures and recommendations]. Dtsch Med Wochenschr 2015; 140 (Suppl. 17) 1265-71.
• 42 Deutsche Gesellschaft fur Pneumologie und B, Deutsche Gesellschaft fur Schlafforschung und S, Verband Pneumologischer K, Bundesverband der P.. [Position paper on the diagnosis and treatment of breathing disturbances during sleep]. Pneumologie 2014; 68 (Suppl. 01) 15-8.
• 43 Aarrestad S, Tollefsen E, Kleiven AL, Qvarfort M, Janssens JP, Skjons-berg OH. Validity of transcutaneous PCO2 in monitoring chronic hypoventilation treated with non-invasive ventilation. Respiratory medicine 2016; 112: 112-8.
• 44 Boentert M, Glatz C, Helmle C, Okegwo A, Young P. Prevalence of sleep apnoea and capnographic detection of nocturnal hypoventilation in amyotrophic lateral sclerosis. Journal of neurology, neurosurgery, and psychiatry 2017.
• 45 Storre JH, Magnet FS, Dreher M, Windisch W. Transcutaneous monitoring as a replacement for arterial PCO(2) monitoring during nocturnal non-invasive ventilation. Respiratory medicine 2011; 105 (Suppl. 01) 143-50.
• 46 Windisch W, Dreher M, Geiseler J, Siemon K, Brambring J, Dellweg D. et al. [Guidelines for Non-Invasive and Invasive Home Mechanical Ventilation for Treatment of Chronic Respiratory Failure - Update 2017]. Pneumologie 2017; 71 (Suppl. 11) 722-95.
• 47 Boentert M, Brenscheidt I, Glatz C, Young P. Effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with amyotrophic lateral sclerosis. Journal of neurology 2015; 262 (Suppl. 09) 2073-82.
• 48 Boentert M, Drager B, Glatz C, Young P. Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease. Journal of clinical sleep medicine : JCSM 2016; 12 (Suppl. 12) 1623-32.
• 49 Vrijsen B, Buyse B, Belge C, Robberecht W, Van Damme P, Decramer M. et al. Noninvasive ventilation improves sleep in amyotrophic lateral sclerosis: a prospective polysomnographic study. JCSM 2015; 11 (Suppl. 05) 559-66.
• 50 Raphael JC, Dazord A, Jaillard P, Andronikof-Sanglade A, Benony H, Kovess V. et al. [Assessment of quality of life for home ventilated patients with Duchenne muscular dystrophy]. Rev Neurol 2002; 158 (Suppl. 04) 453-60.
• 51 Vandoorne E, Vrijsen B, Belge C, Testelmans D, Buyse B. Noninvasive ventilation in amyotrophic lateral sclerosis: effects on sleep quality and quality of life. Acta Clin Belg 2016: 1-6.
• 52 Bourke SC, Tomlinson M, Williams TL, Bullock RE, Shaw PJ, Gibson GJ. Effects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis: a randomised controlled trial. The Lancet Neurology 2006; 5 (Suppl. 02) 140-7.
• 53 Simonds AK, Muntoni F, Heather S, Fielding S. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax 1998; 53 (Suppl. 11) 949-52.
• 54 Vitacca M. et al. Impact of an early respiratory care program with NIV adaptation in patients with ALS. European journal of neurology 2017.
• 55 Birnkrant DJ. et al. The respiratory management of patients with duchenne muscular dystrophy: a DMD care considerations working group specialty article. Pediatr Pulmonol 2010; 45 (Suppl. 08) 739-48.
• 56 Diagnosis ET. et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS) - revised report of an EFNS task force. European journal of neurology 2012; 19 (Suppl. 03) 360-75.
• 57 Cupler EJ. et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle & nerve 2012; 45 (Suppl. 03) 319-33.
• 58 Gonzalez-Bermejo J. et al. Prognostic value of efficiently correcting nocturnal desaturations after one month of non-invasive ventilation in amyotrophic lateral sclerosis: a retrospective monocentre observational cohort study. Amyotrophic lateral sclerosis & frontotemporal degeneration 2013; 14 5-6 373-9.
• 59 Ogna A. et al. Prognostic Value of Initial Assessment of Residual Hypoventilation Using Nocturnal Capnography in Mechanically Ventilated Neuromuscular Patients: A 5-Year Follow-up Study. Front Med 2016; 3: 40.
• 60 Georges M. et al. Reduced survival in patients with ALS with upper airway obstructive events on non-invasive ventilation. Journal of neurology, neurosurgery, and psychiatry 2016; 87 (Suppl. 10) 1045-50.
• 61 Dempsey JA VS, Morgan BJ, O’Donnell CP. Pathophysiology of Sleep Apnea. Physiological Reviews 2010; 90 (Suppl. 01) 47-112.
• 62 Bianchi ML. et al. Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. Sleep & breathing = Schlaf & Atmung 2014; 18 (Suppl. 03) 579-89.
• 63 Schneider HBA. et al. Modulation of upper airway collapsibility during sleep: influence of respiratory phase and flow regimen. J Appl Physiol 2002; 93 (Suppl. 04) 1365-76.
• 64 American Academy of Sleep Medicine.. International Classification of Sleep Disorders reI-DacmW. IL: American Academy of Sleep Medicine; 2014
• 65 Berry RB. et al. Rules for scoring respiratory events in sleep: update of the 2007 AASM Manual for the Scoring of Sleep and Associated Events. Deliberations of the Sleep Apnea Definitions Task Force of the American Academy of Sleep Medicine. JCSM 2012; 8 (Suppl. 05) 597-619.
• 66 Nuckton TJ, Glidden DV, Browner WS, Claman DM. Physical examination: Mallampati score as an independent predictor of obstructive sleep apnea. Sleep 2006; 29 (Suppl. 07) 903-8.
• 67 Maurer JT, Stuck BA. [Update on upper airway evaluation in obstructive sleep apnea]. HNO 2008; 56 (Suppl. 11) 1089-97.
• 68 Punjabi NM. The epidemiology of adult obstructive sleep apnea. Proc Am Thorac Soc 2008; 5 (Suppl. 02) 136-43.
• 69 Della Marca G. et al. Sleep disordered breathing in facioscapulohu-meral muscular dystrophy. Journal of the neurological sciences 2009; 285 1-2 54-8.
• 70 Pincherle A. et al. Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1. Neuromuscul Disord 2012; 22 (Suppl. 03) 219-24.
• 71 Romigi A. et al. Sleep disorders in myotonic dystrophy type 2: a controlled polysomnography study and self-reported questionnaires. Eur J Neurol 2014; 21 (Suppl. 06) 929-34.
• 72 Polat M. et al. Assessment of sleep-related breathing disorders in patients with duchenne muscular dystrophy. J Clin Med Res 2012; 4 (Suppl. 05) 332-7.
• 73 Romigi A. et al. Sleep disorders in spinal and bulbar muscular atrophy (Kennedy’s disease): a controlled polysomnography and self-reported questionnaires study. J Neurol 2014; 261 (Suppl. 05) 889-93.
• 74 Santos C. et al. Sleep-related breathing disorders in amyotrophic lateral sclerosis. Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace / Fondazione clinica del lavoro, IRCCS [and] Istituto di clinica tisiologica e malattie apparato respiratorio, Universita di Napoli, Secondo ateneo 2003; 59 (Suppl. 02) 160-5.
• 75 Nicolle MW. et al. Sleep apnea in patients with myasthenia gravis. Neurology 2006; 67 (Suppl. 01) 140-2.
• 76 Verse T. et al. [Guideline: Treatment of obstructive sleep apnea in adults]. HNO 2009; 57 (Suppl. 11) 1136-56.