Download PDF
Nervenheilkunde 2017; 36(01/02): 71-77
DOI: 10.1055/s-0038-1635140
Muskelerkrankungen
Schattauer GmbH

Diagnose und Therapie von chronischen Atmungsstörungen bei neuromuskulären Erkrankungen

Diagnosis and therapy of chronic sleep-disordered breathing in neuromuscular disorders
M. Boentert
1   Universitätsklinikum Münster Department für Neurologie Klinik für Schlafmedizin und Neuromuskuläre Erkrankungen
,
M. Winterholler
2   Krankenhaus Rummelsberg, Klinik für Neurologie, Schwarzenbruck
› Author Affiliations
Further Information

Publication History

eingegangen am: 04 October 2016

angenommen am: 12 October 2016

Publication Date:
03 February 2018 (online)

    Permissions and Reprints

Zusammenfassung

Neuromuskuläre Erkrankungen gehen mit einem erhöhten Risiko für die Entwicklung schlafbezogener Atmungsstörungen (SBAS) einher. Hierzu zählen die alveoläre Hypoventilation auf dem Boden einer Zwerchfellparese und die obstruktive Schlafapnoe als Folge einer muskulären Hypotonie des oberen Atemwegs. SBAS treten bei unterschiedlichen neuromuskulären Erkrankungen mit unterschiedlicher Häufigkeit auf und stellen einen klinisch hoch relevanten Faktor für die Morbidität und Mortalität der betroffenen Patienten dar. Der vorliegende Übersichtsartikel beschreibt die gängigen diagnostischen Verfahren zur Messung von Atemmuskelkraft und Atmungsstörungen im Schlaf. Ferner wird auf die nicht invasive Beatmung und die Bedeutung eines qualifizierten Sekretmanagements bei klinisch relevanter Hustenschwäche eingegangen.

Summary

Neuromuscular disorders are associated with an increased risk of sleep-disordered breathing (SDB). These comprise alveolar hypoventilation due to respiratory muscle weakness and obstructive sleep apnea resulting from upper airway hypotonia. Prevalence of SDB differs between different neuromuscular disorders, but often, SDB substantially adds to both morbidity and mortality of affected patients. The following article gives an overview over tests of respiratory muscle strength, non-invasive ventilation and management of secretions which has to be installed in case of significant expiratory muscle weakness.

Schlüsselwörter

Neuromuskuläre Erkrankungen - schlafbezogene Hypoventilation - Zwerchfellparese - obstruktive Schlafapnoe - Heimbeatmung - Sekretmanagement

Keywords

Neuromuscular disorders - alveolar hypoventilation - respiratory muscle weakness - obstructive sleep apnea - non-invasive ventilation - management of secretions
 

  • Literatur

  • 1 Berger KI, Rapoport DM, Ayappa I, Goldring RM. Pathophysiology of hypoventilation during sleep. Sleep Med Clin 2014; 09: 289-300.
    CrossrefGoogle Scholar
  • 2 Windisch W, Brambring J, Budweiser S, Dellweg D, Geiseler J, Gerhard F. et al. [Non-invasive and invasive mechanical ventilation for treatment of chronic respiratory failure. S2-Guidelines published by the German Medical Association of Pneumology and Ventilatory Support]. Pneumologie 2010; 64 (04) 207-40.
    Article in Thieme ConnectGoogle Scholar
  • 3 Chahal CA, Somers VK. Risk factors. Sleep apnoea, atrial fibrillation, and heart failure – quo vadis? Nat Rev Cardiol 2015; 12 (05) 263-4.
    Google Scholar
  • 4 Dempsey JA, Veasey SC, Morgan BJ, O’Donnell CP. Pathophysiology of Sleep Apnea. Physiological Reviews 2010; 90 (01) 47-112.
    CrossrefGoogle Scholar
  • 5 Boentert M, Knop K, Schuhmacher C, Gess B, Okegwo A, Young P. Sleep disorders in CharcotMarie-Tooth disease type 1. J Neurol Neurosurg Psychiatry 2014; 85 (03) 319-25.
    CrossrefGoogle Scholar
  • 6 Bianchi ML, Losurdo A, Di Blasi C, Santoro M, Masciullo M, Conte G. et al. Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. Sleep Breath 2014; 18 (03) 579-89.
    CrossrefGoogle Scholar
  • 7 Schneider H, Boudewyns A, Smith PL, O’Donnell CP, Canisius S, Stammnitz A. et al. Modulation of upper airway collapsibility during sleep: influence of respiratory phase and flow regimen. J Appl Physiol 2002; 93 (04) 1365-76.
    CrossrefGoogle Scholar
  • 8 Peppard PE, Young T, Palta M, Skatrud J. Prospective study of the association between sleep-disordered breathing and hypertension. N Engl J Med 2000; 342 (19) 1378-84.
    CrossrefGoogle Scholar
  • 9 Gami AS, Pressman G, Caples SM, Kanagala R, Gard JJ, Davison DE. et al. Association of atrial fibrillation and obstructive sleep apnea. Circulation 2004; 110 (04) 364-7.
    CrossrefGoogle Scholar
  • 10 Yaggi HK, Concato J, Kernan WN, Lichtman JH, Brass LM, Mohsenin V. Obstructive sleep apnea as a risk factor for stroke and death. N Engl J Med 2005; 353 (19) 2034-41.
    CrossrefGoogle Scholar
  • 11 American Academy of Sleep Medicine. International Classification of Sleep Disorders. neIDacmW, IL: American Academy of Sleep Medicine; 2014
    Google Scholar
  • 12 Barthlen GM. Nocturnal respiratory failure as an indication of noninvasive ventilation in the patient with neuromuscular disease. Respiration 1997; 64 (Suppl. 01) 35-8.
    Google Scholar
  • 13 Li W, Daems E, Van de Woestijne KP, Van Diest I, Gallego J, De Peuter S. et al. Air hunger and ventilation in response to hypercapnia: effects of repetition and anxiety. Physiol Behav 2006; 88 (1–2): 47-54.
    CrossrefGoogle Scholar
  • 14 de Carvalho M, Matias T, Coelho F, Evangelista T, Pinto A, Luis ML. Motor neuron disease presenting with respiratory failure. Journal of the neurological sciences 1996; 139 Suppl: 117-22.
    Google Scholar
  • 15 Khirani S, Colella M, Caldarelli V, Aubertin G, Boule M, Forin V. et al. Longitudinal course of lung function and respiratory muscle strength in spinal muscular atrophy type 2 and 3. Eur J Paediatr Neurol 2013; 17 (06) 552-60.
    CrossrefGoogle Scholar
  • 16 Toussaint M, Steens M, Soudon P. Lung function accurately predicts hypercapnia in patients with Duchenne muscular dystrophy. Chest 2007; 131 (02) 368-75.
    CrossrefGoogle Scholar
  • 17 Gigliotti F, Pizzi A, Duranti R, Gorini M, Iandelli I, Scano G. Control of breathing in patients with limb girdle dystrophy: a controlled study. Thorax 1995; 50 (09) 962-8.
    CrossrefGoogle Scholar
  • 18 Stubgen JP, Ras GJ, Schultz CM, Crowther G. Lung and respiratory muscle function in limb girdle muscular dystrophy. Thorax 1994; 49 (01) 61-5.
    CrossrefGoogle Scholar
  • 19 Della GMarca, Frusciante R, Dittoni S, Vollono C, Buccarella C, Iannaccone E. et al. Sleep disordered breathing in facioscapulohumeral muscular dystrophy. Journal of the neurological sciences 2009; 285 (1–2): 54-8.
    CrossrefGoogle Scholar
  • 20 Dean E. Preferred practice patterns in cardiopulmonary physical therapy: A guide to physiologic measures. Cardiopulmonary Physical Therapy Journal 1999; 10 (04) 124-34.
    Google Scholar
  • 21 Mellies U, Ragette R, Schwake C, Boehm H, Voit T, Teschler H. Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders. Neuromuscul Disord 2003; 13 (02) 123-8.
    CrossrefGoogle Scholar
  • 22 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 (10) 640-52.
    Article in Thieme ConnectGoogle Scholar
  • 23 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. J Neurol 2015; 262 (09) 2073-82.
    CrossrefGoogle Scholar
  • 24 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 (04) 453-60.
    Google Scholar
  • 25 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.
    Google Scholar
  • 26 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. Lancet Neurology 2006; 05 (02) 140-7.
    CrossrefGoogle Scholar
  • 27 Simonds AK, Muntoni F, Heather S, Fielding S. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax 1998; 53 (11) 949-52.
    CrossrefGoogle Scholar
  • 28 Birnkrant DJ, Bushby KM, Amin RS, Bach JR, Benditt JO, Eagle M. et al. The respiratory management of patients with duchenne muscular dystrophy: a DMD care considerations working group specialty article. Pediatr Pulmonol 2010; 45 (08) 739-48.
    CrossrefGoogle Scholar
  • 29 Diagnosis ETFo Management of Amyotrophic Lateral S, Andersen PM, Abrahams S, Borasio GD, de Carvalho M. et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS) – revised report of an EFNS task force. Eur J Neurol 2012; 19 (03) 360-75.
    CrossrefPubMedGoogle Scholar
  • 30 Boentert M, Drager B, Glatz C, Young P. Sleep-disordered breathing and effects of noninvasive ventilation in patients with late-onset Pompe disease. J Clin Sleep Med. 2016 epub.
    Google Scholar
  • 31 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 (07) 1290-5.
    CrossrefGoogle Scholar
  • 32 Poppe M, Cree L, Bourke J, Eagle M, Anderson LV, Birchall D. et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 2003; 60 (08) 1246-51.
    CrossrefGoogle Scholar
  • 33 Hagemans ML, Hop WJ, Van Doorn PA, Reuser AJ, Van der Ploeg AT. Course of disability and respiratory function in untreated late-onset Pompe disease. Neurology 2006; 66 (04) 581-3.
    CrossrefGoogle Scholar
  • 34 Rabinstein AA. Noninvasive ventilation for neuromuscular respiratory failure: when to use and when to avoid. Curr Opin Crit Care 2016; 22 (02) 94-9.
    Google Scholar
  • 35 Netto AB, Taly AB, Kulkarni GB, Rao UG, Rao S. Mortality in mechanically ventilated patients of Guillain Barre Syndrome. Ann Indian Acad Neurol 2011; 14 (04) 262-6.
    CrossrefGoogle Scholar
  • 36 Punjabi NM. The epidemiology of adult obstructive sleep apnea. Proc Am Thorac Soc 2008; 05 (02) 136-43.
    CrossrefGoogle Scholar
  • 37 Romigi A, Liguori C, Placidi F, Albanese M, Izzi F, Uasone E. et al. Sleep disorders in spinal and bulbar muscular atrophy (Kennedy’s disease): a controlled polysomnographic and self-reported questionnaires study. J Neurol 2014; 261 (05) 889-93.
    CrossrefGoogle Scholar
  • 38 Pincherle A, Patruno V, Raimondi P, Moretti S, Dominese A, Martinelli-Boneschi F. et al. Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1. Neuromuscul Disord 2012; 22 (03) 219-24.
    CrossrefGoogle Scholar
  • 39 Romigi A, Albanese M, Placidi F, Izzi F, Liguori C, Marciani MG. et al. Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires. Eur J Neurol 2014; 21 (06) 929-34.
    CrossrefGoogle Scholar
  • 40 Polat M, Sakinci O, Ersoy B, Sezer RG, Yilmaz H. Assessment of sleep-related breathing disorders in patients with duchenne muscular dystrophy. J Clin Med Res 2012; 04 (05) 332-7.
    Google Scholar
  • 41 Santos C, Braghiroli A, Mazzini L, Pratesi R, Oliveira LV, Mora G. Sleep-related breathing disorders in amyotrophic lateral sclerosis. Monaldi Arch Chest Dis 2003; 59 (02) 160-5.
    PubMedGoogle Scholar
  • 42 Nicolle MW, Rask S, Koopman WJ, George CF, Adams J, Wiebe S. Sleep apnea in patients with myasthenia gravis. Neurology 2006; 67 (01) 140-2.
    CrossrefGoogle Scholar
  • 43 Bach JR. Mechanical insufflation-exsufflation: comparison of peak expiratory flows with manually assisted and unassisted coughing techniques. Chest 1993; 104: 1553-1562.
    CrossrefGoogle Scholar
  • 44 Bach JR. Update and perspectives on noninvasive respiratory muscle aids; part 2, the expiratory muscle aids. Chest 1994; 105: 1538-1544.
    CrossrefGoogle Scholar
  • 45 Kang SW, Bach JR. Maximum insufflation capacity. Chest 2000; 118: 61-65.
    CrossrefGoogle Scholar
  • 46 Chatwin M, Ross E, Hart N, Nickol AH, Polkey MI, Simonds AK. Cough augmentation with mechanical insufflation/exsufflation in patients with neuromuscular weakness. Eur Respir J 2003; 21: 502-508.
    CrossrefPubMedGoogle Scholar
  • 47 Gomez-Merino E, Sancho J, Marin J, Severa E, Blasco ML, Belda FJ. Mechanical insufflationexsufflation. Pressure, volume, and flow relationships and the adequacy of the manufacturer ìs guidelines. Am J Phys Med Rehabil 2002; 81: 579-583.
    CrossrefGoogle Scholar