Official reprint from UpToDate®
www.uptodate.com ©2016 UpToDate®

Evaluation of sleep disordered breathing in patients with neuromuscular and chest wall disease

Naomi R Kramer, MD
Richard P Millman, MD
Nicholas S Hill, MD
Section Editors
Jeremy M Shefner, MD, PhD
M Safwan Badr, MD
Deputy Editor
April F Eichler, MD, MPH


Patients with neuromuscular or chest wall disease commonly have respiratory problems resulting from some combination of respiratory muscle dysfunction and decreased lung and chest wall compliance. These factors may contribute to difficulty with clearance of airway secretions, ventilation-perfusion mismatching, and eventually global alveolar hypoventilation [1]. (See "Continuous noninvasive ventilatory support for patients with neuromuscular or chest wall disease".)

Sleep disordered breathing is a significant cause of morbidity and mortality among patients with neuromuscular and chest wall disorders [2-5]. It is most often due to obstructive sleep apnea (OSA, a disorder characterized by obstructive apneas and hypopneas) or nocturnal hypoventilation, but central sleep apnea (CSA) can also be seen in patients with myotonic and muscular dystrophy [6-8]. (See "Central sleep apnea: Pathogenesis".)


The presence of symptoms is the major factor favoring evaluation of the patient for obstructive sleep apnea (OSA), central sleep apnea (CSA), or hypoventilation. However, some patients may have sleep disordered breathing without symptoms but with suggestive physiologic parameters, eg, severe restriction on pulmonary function tests or unexplained cor pulmonale. Such patients should be evaluated with an arterial blood gas and a sleep study.

Classic symptoms of sleep disordered breathing include excessive daytime sleepiness, morning headache, and restless sleep, but insomnia may also be seen. In addition:

Some patients with OSA may awaken with choking or shortness of breath


Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: Sep 2016. | This topic last updated: Jul 30, 2014.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2016 UpToDate, Inc.
  1. Perrin C, Unterborn JN, Ambrosio CD, Hill NS. Pulmonary complications of chronic neuromuscular diseases and their management. Muscle Nerve 2004; 29:5.
  2. Shneerson JM. Respiration during sleep in neuromuscular and thoracic cage disorders. Monaldi Arch Chest Dis 2004; 61:44.
  3. Bourke SC, Gibson GJ. Sleep and breathing in neuromuscular disease. Eur Respir J 2002; 19:1194.
  4. Guilleminault C, Shergill RP. Sleep-disordered Breathing in Neuromuscular Disease. Curr Treat Options Neurol 2002; 4:107.
  5. Krachman SL, Criner GJ. Sleep and long-term ventilation. Respir Care Clin N Am 2002; 8:611.
  6. Cirignotta F, Mondini S, Zucconi M, et al. Sleep-related breathing impairment in myotonic dystrophy. J Neurol 1987; 235:80.
  7. Smith PE, Edwards RH, Calverley PM. Ventilation and breathing pattern during sleep in Duchenne muscular dystrophy. Chest 1989; 96:1346.
  8. Smith PE, Calverley PM, Edwards RH, et al. Practical problems in the respiratory care of patients with muscular dystrophy. N Engl J Med 1987; 316:1197.
  9. Dolmage TE, Avendano MA, Goldstein RS. Respiratory function during wakefulness and sleep among survivors of respiratory and non-respiratory poliomyelitis. Eur Respir J 1992; 5:864.
  10. Steljes DG, Kryger MH, Kirk BW, Millar TW. Sleep in postpolio syndrome. Chest 1990; 98:133.
  11. Ellis ER, Grunstein RR, Chan S, et al. Noninvasive ventilatory support during sleep improves respiratory failure in kyphoscoliosis. Chest 1988; 94:811.
  12. Mezon BL, West P, Israels J, Kryger M. Sleep breathing abnormalities in kyphoscoliosis. Am Rev Respir Dis 1980; 122:617.
  13. Steier J, Jolley CJ, Seymour J, et al. Screening for sleep-disordered breathing in neuromuscular disease using a questionnaire for symptoms associated with diaphragm paralysis. Eur Respir J 2011; 37:400.
  14. Simonds AK. Recent advances in respiratory care for neuromuscular disease. Chest 2006; 130:1879.
  15. Ragette R, Mellies U, Schwake C, et al. Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax 2002; 57:724.
  16. Gay PC, Westbrook PR, Daube JR, et al. Effects of alterations in pulmonary function and sleep variables on survival in patients with amyotrophic lateral sclerosis. Mayo Clin Proc 1991; 66:686.
  17. Unterborn JN, Hill NS. Options for mechanical ventilation in neuromuscular diseases. Clin Chest Med 1994; 15:765.
  18. Braun NM, Arora NS, Rochester DF. Respiratory muscle and pulmonary function in polymyositis and other proximal myopathies. Thorax 1983; 38:616.
  19. Bradley TD. Right and left ventricular functional impairment and sleep apnea. Clin Chest Med 1992; 13:459.
  20. Yamashiro Y, Kryger MH. Review: sleep in heart failure. Sleep 1993; 16:513.
  21. Meyer TJ, Eveloff SE, Kline LR, Millman RP. One negative polysomnogram does not exclude obstructive sleep apnea. Chest 1993; 103:756.
  22. Bonsignore G, Marrone O, Macaluso C, et al. Validation of oximetry as a screening test for obstructive sleep apnoea syndrome. Eur Respir J Suppl 1990; 11:542s.
  23. Douglas NJ, Thomas S, Jan MA. Clinical value of polysomnography. Lancet 1992; 339:347.
  24. Williams AJ, Yu G, Santiago S, Stein M. Screening for sleep apnea using pulse oximetry and a clinical score. Chest 1991; 100:631.
  25. Guilleminault C, Stoohs R, Clerk A, et al. A cause of excessive daytime sleepiness. The upper airway resistance syndrome. Chest 1993; 104:781.
  26. Rosen CL, D'Andrea L, Haddad GG. Adult criteria for obstructive sleep apnea do not identify children with serious obstruction. Am Rev Respir Dis 1992; 146:1231.
  27. Marcus CL, Omlin KJ, Basinki DJ, et al. Normal polysomnographic values for children and adolescents. Am Rev Respir Dis 1992; 146:1235.
  28. Kotterba S, Patzold T, Malin JP, et al. Respiratory monitoring in neuromuscular disease - capnography as an additional tool? Clin Neurol Neurosurg 2001; 103:87.
  29. Sanders MH, Kern NB, Costantino JP, et al. Accuracy of end-tidal and transcutaneous PCO2 monitoring during sleep. Chest 1994; 106:472.