RESUMEN

Las enfermedades neuromusculares (ENM) y de la caja torácica difieren en su etiología, en sus manifestaciones clínicas y en pronóstico; sin embargo, comparten en etapas avanzadas el desarrollo de insuficiencia respiratoria que suele conducir a la muerte. Los trastornos respiratorios del dormir son frecuentes en pacientes con ENM. Éstos pueden aparecer de forma independiente o estar relacionados per se a las ENM e incluyen a la apnea obstructiva, apnea central e hipoventilación alveolar. Este documento tiene como objetivo describir la fisiopatología de los trastornos respiratorios del dormir en pacientes con ENM con énfasis en el más común y deletéreo, que es el síndrome de hipoventilación-hipoxemia asociado al dormir. Consideramos que esta información podría ser de utilidad al clínico para un mejor entendimiento de las complicaciones respiratorias de los pacientes con ENM; y con ello, sensibilizar a los especialistas en la importancia de la ventilación mecánica no invasiva.

PALABRAS CLAVE

Enfermedad neuromuscular, trastorno respiratorio del dormir, hipoventilación.

REFERENCIAS

1. Americam Academy of Sleep Medicine. The international classification of sleep disorders. Diagnostic and coding manual. 2nd ed. Westchester, Illinois: Americam Academy of Sleep Medicine, 2005.

2. Cau MT, George CFP, Guilleminault C. Sleep and neuromuscular disease. In: Kryger M, Roth T, Dement W, editors. Principles and practice of sleep medicine. 5th ed. St. Louis Missouri: Elsevier, 2011:1016-1025.

3. Oztura I, Guilleminault C. Neuromuscular disorders and sleep. Curr Neurol Neurosci Rep 2005;5:147-152.

4. Labanowski M, Schmidt-Nowara W, Guilleminault C. Sleep and neuromuscular disease: frequency of sleep-disorders breathing in a neuromuscular disease clinic population. Neurology 1996;47:1173-1180.

5. Simonds AK, Muntoni F, Heather S, Fielding S. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax 1998;53:949-952.

6. Lyall RA, Donaldson N, Fleming T, et al. A prospective study of quality of life in ALS patients treated with noninvasive ventilation. Neurology 2001;57:153-156.

7. Ambrosino N, Carpenè N, Gherardi M. Chronic respiratory care for neuromuscular diseases in adults. Eur Respir J 2009;34:444-451.

8. Piper A. Sleep abnormalities associated with neuromuscular disease: patophysiology and evaluation. Semin Respir Crit Care Med 2002;23:211-219.

9. Simonds AK, Muntoni F, Heather S, et al. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax 1998;53:949-952.

10. Krimsky WR, Leiter JC. Physiology of breathing and respiratory control during sleep. Semin Respir Crit Care Med 2005;26:5-12.

11. Douglas NJ, White DP, Weil JV, et al. Hypoxic ventilatory response decreases during sleep in normal men. Am Rev Respir Dis 1982;125:286-289.

12. Douglas NJ, White DP, Weil JV, Pickett CK, Zwillich CW. Hypercapnic ventilatory response in sleeping adults. Am Rev Respir Dis 1982;126:758-762.

13. Douglas NJ, White DP, Pickett CK, Weil JV, Zwillich CW. Respiration during sleep in normal man. Thorax 1982;37:840-844.

14. Berthon-Jones M, Sullivan CE. Ventilatory and arousal responses to hypoxia in sleeping humans. Am Rev Respir Dis 1982;125:632-639.

15. Iber C, Berssenbrugge A, Skatrud J, Dempsey JA. Ventilatory adaptations to resistive loading during wakefulness and non-REM sleep. J Appl Physiol 1982;52:607-614.

16. Gould GA, Gugger M, Molloy J, Tsara V, Shapiro CM, Douglas NJ. Breathing pattern and eye movement density during REM sleep in humans. Am Rev Respir Dis 1988;138:874-877.

17. Millman RP, Knight H, Kline LR, Shore ET, Chung DC, Pack AI. Changes in compartmental ventilation in association with eye movements during REM sleep. J Appl Physiol 1988;65:1196-1202.

18. Lopes JM, Tabachnik E, Muller NL, Levison H, Bryan AC. Total airway resistance and respiratory muscle activity during sleep. J Appl Physiol 1983;54:773-777.

19. Fitzpatrick MF, McLean H, Urton AM, Tan A, O’Donnell D, Driver HS. Effect of nasal or oral breathing route on upper airway resistance during sleep. Eur Respir J 2003;22:827-832.

20. Tabachnik E, Muller NL, Bryan AC, Levison H. Changes in ventilation and chest wall mechanics during sleep in normal adolescents. J Appl Physiol 1981;51:557-564.

21. Krimsky WR, Leiter JC. Physiology of breathing and respiratory control during sleep. Semin Respir Crit Care Med 2005;26:5-12.

22. Khan Y, Heckmatt JZ. Obstructive apnoeas in Duchenne muscular dystrophy. Thorax 1994;49:157-161.

23. White JE, Drinnan MJ, Smithson AJ, Griffiths CJ, Gibson GJ. Respiratory muscle activity and oxygenation during sleep in patients muscle weakness. Eur Respir J 1995;8:807-814.

24. Davies RJ, Ali NJ, Stradling JR. Neck circumference and other features in the diagnosis of the obstructive sleep apnoea syndrome. Thorax 1992;47:101-105.

25. Dematteis M, PépinJL, Jeanmart M, Deschaux C, Labarre-Vila A, Lévy P. Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study. Lancet 2001;357:267-272.

26. Lüdemann P, Dziewas R, Sörös P, Happe S, Frese A. Axonal polyneuropathy in obstructive sleep apnoea. J Neurol Neurosurg Psychiatry 2001;70:685-687.

27. Arnulf I, Similowski T, Salachas F, et al. Sleep disorders and diaphragmatic function in patients with amyotrophic lateral sclerosis. Am J Respir Crit Care Med 2000;161:849-856.

28. Smith PE, Calverley PM, Edwards RH. Hypoxemia during sleep in Duchenne muscular dystrophy. Am Rev Respir Dis 1988;137:884-888.

29. Cirignotta F, Mondini S, Zucconi M, et al. Sleep-related breathing impairment in myotonic dystrophy. J Neurol 1987;235:80-85.

30. Dean AC, Graham BA, Dalakas M, Sato S. Sleep apnea in patients with postpolio syndrome. Ann Neurol 1998;43:661-664.

31. Guilleminault C, Shergill R. Sleep-disordered breathing in neuromuscular disease. Curr Treat Options Neurol 2002;4:107-112.

32. White DP, Douglas NJ, Pickett CK, Zwillich CW, Weil JV. Sleep deprivation and the control of ventilation. Am Rev Respir Dis 1983;128:984-986.

33. Phillips BA, Cooper KR, Burke TV. The effect of sleep loss on breathing in chronic obstructive pulmonary disease. Chest 1987;91:29-32.

34. White JE, Drinnan MJ, Smithson AJ, Griffith S, Gibson GJ. Respiratory muscle activity and oxygenation during sleep in patients with muscle weakness. Eur Respir J 1995;8:807-814.

35. Carre PC, Didier AP, Tiberge YM, Arbus LJ, Leophonte PJ. Amyotrophic lateral sclerosis presenting with sleep hypopnea syndrome. Chest 1988;93:1309-1312.

36. Han MK, McLaughlin VV, Criner GJ, Martínez FJ. Pulmonary diseases and the heart. Circulation 2007;116:2992-3005.

37. Burns TM, Graham CD, Rose MR, Simmons Z. Quality of life and measures of quality of life in patients with neuromuscular disorders. Muscle Nerve 2012;46:9-25.

38. Annane D, Orlikowski D, Chevret S, Chevrolet JC, Raphaël JC. Nocturnal mechanical ventilation for chronic hypoventilation in patients with neuromuscular and chest wall disorders. Cochrane Database Syst Rev 2007;4:CD001940.

39. Windisch W; Quality of live in home mechanical ventilation study group. Impact of home mechanical ventilation on health-related quality of life. Eur Respir J 2008;32:1328-1336.

40. Domínguez FME, Luna PE, Peñalosa OL, et al. Guía para el diagnóstico y tratamiento de las alteraciones respiratorias en las enfermedades neuromusculares. Neumol Cir Tórax 2011;70:5-70.