Download PDF
Nervenheilkunde 2011; 30(09): 677-682
DOI: 10.1055/s-0038-1628419
Update Neurologie
Schattauer GmbH

Muskelerkrankungen und Atmungsstörungen

Muscle diseases and respiratory disturbances
P. Young
1   Sektion für Schlafmedizin und ambulante Neurologie, Klinische Neurologie und Neurogenetik, Klinik und Poliklinik für Neurologie, Universitätsklinikum Münster
› Author Affiliations
Further Information

Publication History

Eingegangen am: 16 June 2011

angenommen am: 20 June 2011

Publication Date:
23 January 2018 (online)

Also available at
    Permissions and Reprints

Zusammenfassung

In der klinischen Neurologie haben Atmungsstörungen bei Patienten mit Muskelerkrankungen eine zunehmende Bedeutung. Aufgrund der zur Verfügung stehenden guten Behandlungsmöglichkeiten durch Verfahren der nicht invasiven Beatmung sollten möglichst früh im Verlauf der Muskelerkrankungen die verschiedenen Atmungsstörungen klinisch diagnostiziert werden, um eine geeignete Beatmungstherapie einzuleiten. Die klinische Diagnostik basiert auf der gezielten Anamnese, klinischen validierten Fragebögen zur Tagesschläfrigkeit und der Beachtung der klinischen Symptome am Tage, die auf eine Atmungsstörung hinweisen. Atmungsstörungen treten bei Muskelerkrankungen initial im Schlaf auf. Die klinischen Symptome im Wachen und am Tag der früh als schlafbezogen imponierenden Atmungsstörungen sind in der alltäglichen Untersuchungssituation untersuchbar, ohne dass die Zuhilfenahme aufwändiger diagnostischer technischer Hilfsmittel erforderlich ist. Zu den am häufigsten mit initial schlafbezogenen Atmungsstörungen einhergehenden Muskelerkrankungen des Erwachsenen zählen einzelne Formen der Gliedergürteldystrophien (Sarkoglykanopathien und Fukutin-related-protein-assoziierte Formen), die Glykogenose Typ 2 (M. Pompe), die Myasthenia gravis und die Fazio-skapulo-humerale Muskeldystrophie.

Summary

There is a growing clinical importance of respiratory disturbances and respiratory failure in muscle disease during the last years. Due to the availability of modern techniques for noninvasive ventilation the early diagnosis of respiratory disturbances has a high impact on the symptomatic treatment of patients suffering from muscle diseases. The clinical diagnosis is based on the specific clinical history, validated scales to measure daytime sleepiness and the detailed examination of clinical symptoms during wakefulness indicating any form of respiratory disturbance or sleep disordered breathing during the night. The clinical examination should aim to detect clinical signs in the every day situation without using sophisticated technical devices. Clinically some forms of limb girdle muscular dystrophies (as sarkoglycanopathies and fukutin related protein associated forms), glycogenosis type 2 (Pompe´s disease), myasthenia gravis and facio-scapulo-humeral muscular dystrophy are the most relevant muscle diseases to cause early respiratory disturbances.

Schlüsselwörter

Muskelerkrankungen - Atmungsstörungen

Keywords

Muscle disease - respiratory disturbance - sleep disordered breathing
 

  • Literatur

  • 1 Mills KR, Edwards RH. Investigative strategies for muscle pain. J Neurol Sci 1983; 58: 73-78.
    CrossrefPubMedGoogle Scholar
  • 2 Hutchinson D, Whyte K. Neuromuscular disease and respiratory failure. Pract Neurol 2008; 08: 229-237.
    CrossrefPubMedGoogle Scholar
  • 3 Mitchell I. Spinal muscular atrophy type 1: what are the ethics and practicality of respiratory support?. Paediatr Respir Rev 2006; 07 Suppl (Suppl. 01) S210-S211.
    CrossrefPubMedGoogle Scholar
  • 4 Wallgren-Pettersson C, Bushby K, Mellies U, Simonds A. 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4–6 April 2003, Naarden, The Netherlands. Neuromuscul Disord 2004; 14: 56-69.
    CrossrefPubMedGoogle Scholar
  • 5 Gomez-Merino E, Bach JR. Duchenne muscular dystrophy: prolongation of life by noninvasive ventilation and mechanically assisted coughing. Am J Phys Med Rehabil 2002; 81: 411-415.
    CrossrefPubMedGoogle Scholar
  • 6 Manzur AY, Kinali M, Muntoni F. Update on the management of Duchenne muscular dystrophy. Arch Dis Child 2008; 93: 986-990.
    CrossrefPubMedGoogle Scholar
  • 7 Perrin C, Unterborn JN, Ambrosio CD, Hill NS. Pulmonary complications of chronic neuromuscular diseases and their management. Muscle Nerve 2004; 29: 5-27.
    CrossrefPubMedGoogle Scholar
  • 8 Windisch W. [Pathophysiology of respiratory muscle weakness]. Pneumologie 2008; 62 Suppl (Suppl. 01) S18-S22.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 9 Levy P, Pepin JL, Deschaux-Blanc C. et al. Accuracy of oximetry for detection of respiratory disturbances in sleep apnea syndrome. Chest 1996; 109: 395-399.
    CrossrefPubMedGoogle Scholar
  • 10 Hagell P, Broman JE. Measurement properties and hierarchical item structure of the Epworth Sleepiness Scale in Parkinson’s disease. J Sleep Res 2007; 16: 102-109.
    CrossrefPubMedGoogle Scholar
  • 11 Nguyen AT, Baltzan MA, Small D. et al. Clinical reproducibility of the Epworth Sleepiness Scale. J Clin Sleep Med 2006; 02: 170-174.
    Google Scholar
  • 12 Laberge L, Gagnon C, Jean S, Mathieu J. Fatigue and daytime sleepiness rating scales in myotonic dystrophy: a study of reliability. J Neurol Neurosurg Psychiatry 2005; 76: 1403-1405.
    CrossrefPubMedGoogle Scholar
  • 13 Lichstein KL, Means MK, Noe SL, Aguillard RN. Fatigue and sleep disorders. Behav Res Ther 1997; 35: 733-740.
    CrossrefPubMedGoogle Scholar
  • 14 Barthlen GM. Nocturnal respiratory failure as an indication of noninvasive ventilation in the patient with neuromuscular disease. Respiration 1997; 64 Suppl (Suppl. 01) 35-38.
    PubMedGoogle Scholar
  • 15 Li W, Daems E, Van de Woestijne KP. et al. Air hunger and ventilation in response to hypercapnia: effects of repetition and anxiety. Physiol Behav 2006; 88: 47-54.
    CrossrefPubMedGoogle Scholar
  • 16 Hagenah G, Beil D. Prevalence of Cheyne-Stokes respiration in modern treated congestive heart failure. Sleep Breath 2009; 13: 181-185.
    CrossrefPubMedGoogle Scholar
  • 17 Andreas S. Central sleep apnea and chronic heart failure. Sleep 2000; 23 Suppl (Suppl. 04) S220-S223.
    PubMedGoogle Scholar
  • 18 Clarenbach P, Wessendorf T. Sleep and stroke. Rev Neurol (Paris) 2001; 157: S46-S52.
    PubMedGoogle Scholar
  • 19 Bassetti CL, Gugger M. Sleep disordered breathing in neurologic disorders. Swiss Med Wkly 2002; 132: 109-115.
    PubMedGoogle Scholar
  • 20 Duning T, Deppe M, Keller S. et al. Excessive Daytime Sleepiness Is a Common Symptom in Fabry Disease. Case Rep Neurol 2009; 01: 33-40.
    CrossrefPubMedGoogle Scholar
  • 21 Shea SA, Guz A. Personnalite ventilatoire--an overview. Respir Physiol 1992; 87: 275-291.
    CrossrefPubMedGoogle Scholar
  • 22 Sivak ED, Shefner JM, Sexton J. Neuromuscular disease and hypoventilation. Curr Opin Pulm Med 1999; 05: 355-362.
    CrossrefPubMedGoogle Scholar
  • 23 Balakrishnan S, Gopalakrishnan M, Alagesan M, Prakash ES. What is the ultimate goal in acid-base regulation?. Adv Physiol Educ 2007; 31: 51-54.
    CrossrefPubMedGoogle Scholar
  • 24 Diaz GG, Alcaraz AC, Talavera JC. et al. Noninvasive positive-pressure ventilation to treat hypercapnic coma secondary to respiratory failure. Chest 2005; 127: 952-960.
    CrossrefPubMedGoogle Scholar
  • 25 Badr C, Elkins MR, Ellis ER. The effect of body position on maximal expiratory pressure and flow. Aust J Physiother 2002; 48: 95-102.
    CrossrefPubMedGoogle Scholar
  • 26 Gigliotti F, Pizzi A, Duranti R. et al. Control of breathing in patients with limb girdle dystrophy: a controlled study. Thorax 1995; 50: 962-968.
    CrossrefPubMedGoogle Scholar
  • 27 Mellies U, Stehling F, Dohna-Schwake C. et al. Respiratory failure in Pompe disease: treatment with noninvasive ventilation. Neurology 2005; 64: 1465-1467.
    CrossrefPubMedGoogle Scholar
  • 28 Cohen CA, Zagelbaum G, Gross D. et al. Clinical manifestations of inspiratory muscle fatigue. Am J Med 1982; 73: 308-316.
    CrossrefPubMedGoogle Scholar
  • 29 Macklem PT. The diaphragm in health and disease. J Lab Clin Med 1982; 99: 601-610.
    PubMedGoogle Scholar
  • 30 Bianchi C, Baiardi P. Cough peak flows: standard values for children and adolescents. Am J Phys Med Rehabil 2008; 87: 461-467.
    CrossrefPubMedGoogle Scholar
  • 31 Griggs RC, Donohoe KM, Utell MJ. et al. Evaluation of pulmonary function in neuromuscular disease. Arch Neurol 1981; 38: 9-12.
    CrossrefPubMedGoogle Scholar
  • 32 Rochester DF, Esau SA. Assessment of ventilatory function in patients with neuromuscular disease. Clin Chest Med 1994; 15: 751-763.
    PubMedGoogle Scholar
  • 33 Ward NS, Hill NS. Pulmonary function testing in neuromuscular disease. Clin Chest Med 2001; 22: 769-781.
    CrossrefPubMedGoogle Scholar
  • 34 Culebras A, Kelly JJ. Sleep disorders and neuromuscular diseases. Rev Neurol Dis 2008; 05: 153-158.
    Google Scholar
  • 35 Kennedy JD, Martin AJ. Chronic respiratory failure and neuromuscular disease. Pediatr Clin North Am 2009; 56: 261-73 xii..
    CrossrefPubMedGoogle Scholar
  • 36 Dhand UK, Dhand R. Sleep disorders in neuromuscular diseases. Curr Opin Pulm Med 2006; 12: 402-408.
    CrossrefPubMedGoogle Scholar
  • 37 Goldblatt D. Undine’s course. Semin Neurol 1995; 15: 218-223.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 38 Gaultier C, Amiel J, Dauger S. et al. Genetics and early disturbances of breathing control. Pediatr Res 2004; 55: 729-733.
    CrossrefPubMedGoogle Scholar
  • 39 Gozal D, Harper RM. Novel insights into congenital hypoventilation syndrome. Curr Opin Pulm Med 1999; 05: 335-338.
    CrossrefPubMedGoogle Scholar
  • 40 D’Angelo MG, Romei M, Lo Mauro A. et al. Respiratory pattern in an adult population of dystrophic patients. J Neurol Sci 2011; 306: 54-61.
    CrossrefPubMedGoogle Scholar
  • 41 Muntoni F, Torelli S, Brockington M. Muscular dystrophies due to glycosylation defects. Neurotherapeutics 2008; 05: 627-632.
    CrossrefPubMedGoogle Scholar
  • 42 Poppe M, Cree L, Bourke J. et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 2003; 60: 1246-1251.
    CrossrefPubMedGoogle Scholar
  • 43 Sveen ML, Schwartz M, Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol 2006; 59: 808-815.
    CrossrefPubMedGoogle Scholar
  • 44 Wraith JE. The clinical presentation of lysosomal storage disorders. Acta Neurol Taiwan 2004; 13: 101-106.
    PubMedGoogle Scholar
  • 45 Muller-Felber W, Horvath R, Gempel K. et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 2007; 17: 698-706.
    CrossrefPubMedGoogle Scholar
  • 46 Mellies U, Lofaso F. Pompe disease: a neuromuscular disease with respiratory muscle involvement. Respir Med 2009; 103: 477-484.
    CrossrefPubMedGoogle Scholar
  • 47 Park JD, Radtke RA. Hypersomnolence in myotonic dystrophy: demonstration of sleep onset REM sleep. J Neurol Neurosurg Psychiatry 1995; 58: 512-513.
    CrossrefPubMedGoogle Scholar
  • 48 Guilleminault C, Cummiskey J, Motta J, LynneDavies P. Respiratory and hemodynamic study during wakefulness and sleep in myotonic dystrophy. Sleep 1978; 01: 19-31.
    CrossrefPubMedGoogle Scholar
  • 49 Begin P, Mathieu J, Almirall J, Grassino A. Relationship between chronic hypercapnia and inspiratorymuscle weakness in myotonic dystrophy. Am J Respir Crit Care Med 1997; 156: 133-139.
    CrossrefPubMedGoogle Scholar
  • 50 Begin R, Bureau MA, Lupien L. et al. Pathogenesis of respiratory insufficiency in myotonic dystrophy: the mechanical factors. Am Rev Respir Dis 1982; 125: 312-318.
    PubMedGoogle Scholar
  • 51 Begin R, Bureau MA, Lupien L, Lemieux B. Control and modulation of respiration in Steinert’s myotonic dystrophy. Am Rev Respir Dis 1980; 121: 281-289.
    PubMedGoogle Scholar
  • 52 Ververs CC, Van der Meche FG, Verbraak AF. et al. Breathing pattern awake and asleep in myotonic dystrophy. Respiration 1996; 63: 1-7.
    CrossrefPubMedGoogle Scholar
  • 53 Thorpy M. Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy. Curr Neurol Neurosci Rep 2003; 03: 165-166.
    CrossrefPubMedGoogle Scholar
  • 54 Nicolle MW, Rask S, Koopman WJ. et al. Sleep apnea in patients with myasthenia gravis. Neurology 2006; 67: 140-142.
    CrossrefPubMedGoogle Scholar
  • 55 Prudlo J, Koenig J, Ermert S, Juhasz J. Sleep disordered breathing in medically stable patients with myasthenia gravis. Eur J Neurol 2007; 14: 321-326.
    CrossrefPubMedGoogle Scholar
  • 56 Besinger UA, Toyka KV, Homberg M. et al. Myasthenia gravis: long-term correlation of binding and bungarotoxin blocking antibodies against acetylcholine receptors with changes in disease severity. Neurology 1983; 33: 1316-1321.
    CrossrefPubMedGoogle Scholar
  • 57 Della Marca G, Frusciante R, Dittoni S. et al. Sleep disordered breathing in facioscapulohumeral muscular dystrophy. J Neurol Sci 2009; 285: 54-58.
    CrossrefPubMedGoogle Scholar