Skip to main content
Log in

Sleep apnea in adult myotonic dystrophy patients who have no excessive daytime sleepiness

  • Original Article
  • Published:
Sleep and Breathing Aims and scope Submit manuscript

Abstract

Purpose

Sleep apnea is common in myotonic dystrophy (MD) and may cause respiratory failure. Most of the sleep studies have been performed in patients with excessive daytime sleepiness (EDS), which is a characteristic and strong predictor of sleep apnea. Therefore, we investigated the prevalence of sleep apnea in adult MD patients who have no EDS.

Materials and methods

Epworth Sleepiness Scale was used to exclude EDS and a score over 10 was accepted as an indicator of EDS. Sleep studies of 17 adult MD patients with the Epworth sleepiness scale score ≤10 were retrospectively reviewed. Spirometry (n = 16) and daytime arterial blood gasses were used to evaluate the relationship with nocturnal parameters.

Results

On admission to the outpatient chest clinic, seven patients had normal spirometry, and ten had daytime hypercapnia and/or hypoxemia. All but one had sleep apnea (apnea–hypopnea index ≥5 events/h of sleep; mild in five, moderate in seven, and severe in four). Hypopneas were more common than apneas (16.9 ± 13.2 events/h vs. 4.6 ± 4.1events/h). Nocturnal desaturation episodes were very frequent (oxygen desaturation index, 19.7 ± 20.3/h of sleep). Three patients had central sleep apnea and 13 had obstructive sleep apnea. Body mass index, spirometry parameters (FVC and FEV1) and arterial oxygen tension were moderately correlated with nocturnal oxygenation parameters. Apnea–hypopnea index showed moderate correlation with spirometry parameters (FVC and FEV1).

Conclusion

Sleep apnea and oxygen desaturations are very common in MD patients who report no excessive daytime sleepiness. Daytime lung function parameters are not sufficiently reliable for screening sleep apnea. Therefore, we recommend routine polysomnography in MD patients.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Perrin C, D’Ambrosio C, White A, Hill NS (2005) Sleep in restrictive and neuromuscular respiratory disorders. Semin Respir Crit Care Med 26:117–130. doi:10.1055/s-2005-864205

    Article  PubMed  Google Scholar 

  2. Coccagna G, Martinelli P, Lugaresi E (1982) Sleep and alveolar hypoventilation in myotonic dystrophy. Acta Neurol Belg 82:185–194

    CAS  PubMed  Google Scholar 

  3. Guilleminault C, Cummiskey J, Motta J, Lyne-Davies P (1978) Respiratory and hemodynamic study during wakefulness and sleep in myotonic dystrophy. Sleep 1:19–31

    CAS  PubMed  Google Scholar 

  4. Bourke SC, Gibson GJ (2002) Sleep and breathing in neuromuscular disease. Eur Respir J 19:1194–1201. doi:10.1183/09031936.02.01302001a

    Article  CAS  PubMed  Google Scholar 

  5. Finnimore AJ, Jackson RV, Morton A, Lynch E (1994) Sleep hypoxia in myotonic dystrophy and its correlation with awake respiratory function. Thorax 49:66–70. doi:10.1136/thx.49.1.66

    Article  CAS  PubMed  Google Scholar 

  6. Cirignotta F, Mondini S, Zuconni M, Sforza E, Gerardi R, Petronelli R (1987) Sleep-related breathing impairment in myotonic dystrophy. J Neurol 235:80–85. doi:10.1007/BF00718014

    Article  CAS  PubMed  Google Scholar 

  7. Broughton R, Stuss D, Kates M, Roberts J, Dunham W (1990) Neuropsychological deficits and sleep in myotonic dystrophy. Can J Neurol Sci 17:410–415

    CAS  PubMed  Google Scholar 

  8. Gilmartin JJ, Cooper BG, Griffiths CJ, Walls TJ, Veale D, Stone TN (1991) Breathing during sleep in patients with myotonic dystrophy and nonmyotonic respiratory muscle weakness. Q J Med 78:21–31

    CAS  PubMed  Google Scholar 

  9. Serisier DE, Mastaglia FL, Gibson GJ (1982) Respiratory muscle function and ventilatory control in: 1) patients with motor neuron disease; and 2) patients with myotonic dystrophy. Q J Med 51:205–226

    CAS  PubMed  Google Scholar 

  10. Perrin C, Unterborn JN, D’Ambrosio C, Hill NS (2004) Pulmonary complications of chronic neuromuscular diseases and their management. Muscle Nerve 29:5–27. doi:10.1002/mus.10487

    Article  PubMed  Google Scholar 

  11. Simonds AK (2002) Respiratory complications of the muscular dystrophies. Semin Respir Crit Care Med 23:231–238. doi:10.1055/s-2002-33031

    Article  PubMed  Google Scholar 

  12. Begin P, Mathieu J, Almirall J, Grassino A (1997) Relationship between chronic hypercapnia and inspiratory muscle weakness in myotonic dystrophy. Am J Respir Crit Care Med 156:133–139

    CAS  PubMed  Google Scholar 

  13. Laberge L, Begin P, Montplaisir J, Mathieu J (2004) Sleep complaints in patients with myotonic dystrophy. J Sleep Res 13:95–100. doi:10.1111/j.1365-2869.2004.00385.x

    Article  PubMed  Google Scholar 

  14. Rubinsztein JS, Rubinsztein DC, Goodburn S, Holland AJ (1998) Apathy and hypersomnia are common features of myotonic dystrophy. J Neurol Neurosurg Psychiatry 64:510–515. doi:10.1136/jnnp. 64.4.510

    Article  CAS  PubMed  Google Scholar 

  15. Kumar SP, Sword D, Petty RKH, Banham SW, Patel KR (2007) Assessment of sleep studies in myotonic dystrophy. Chron Respir Dis 4:15–18. doi:10.1177/1479972306074480

    Article  CAS  PubMed  Google Scholar 

  16. Van der Meche FGA, Bogaard JM, Van der Sluys JCM, Schimsheimer RJ, Ververs CCM, Busch HFM (1994) Daytime sleep in myotonic dystrophy is not caused by sleep apnea. J Neurol Neurosurg Psychiatry 57:626–628. doi:10.1136/jnnp. 57.5.626

    Article  PubMed  Google Scholar 

  17. Giubilei F, Antonini G, Bastianello S et al (1999) Excessive daytime sleepiness in myotonic dystrophy. J Neurol Sci 164:60–63. doi:10.1016/S0022-510X(99)00042-8

    Article  CAS  PubMed  Google Scholar 

  18. Phillips MF, Ster HM, Soldan JR, Wiles CM, Harper PS (1999) Daytime somnolence in myotonic dystrophy. J Neurol 246:275–282. doi:10.1007/s004150050346

    Article  CAS  PubMed  Google Scholar 

  19. Talbot K, Stradling J, Crosby J, Hilton-Jones D (2003) Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy. Neuromuscul Disord 12:357–364. doi:10.1016/S0960-8966(03)00030-0

    Article  Google Scholar 

  20. Gibbs JW, Ciafaloni E, Radtke RA (2002) Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy. Sleep 25:662–665

    PubMed  Google Scholar 

  21. Johns MW (1991) A new method for measuring daytime sleepiness: the Epworth Sleepiness Scale. Sleep 14:540–545

    CAS  PubMed  Google Scholar 

  22. Iber C, Ancoli-Israel S, Chesson AL, Quan SF (2007). AASM Manual for the Scoring Sleep and Associated Events: Rules, Terminology and Technical Specification

  23. American Academy of Sleep Medicine (2005) The international classification of sleep disorders: Diagnostic and Coding Manual: 2nd ed. American Academy of Sleep Medicine, Westchester IL, pp 165–167

    Google Scholar 

  24. Quera-SalVa MA, Blumen M, Jacquette A et al (2006) Sleep disorders in childhood-onset myotonic dystrophy type 1. Neuromuscul Disord 16:564–570. doi:10.1016/j.nmd.2006.06.007

    Article  PubMed  Google Scholar 

  25. Ellis ER, Bye PT, Bruderer JW, Sullivan CE (1987) Treatment of respiratory failure during sleep in patients with neuromuscular disease: positive-pressure ventilation through a nose mask. Am Rev Respir Dis 135:148–152

    CAS  PubMed  Google Scholar 

  26. Mellies U, Ragette R, Schwake C, Boehm H, Voit T, Teschler H (2003) Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders. Neuromuscul Disord 12:123–128. doi:10.1016/S0960-8966(02)00219-5

    Article  Google Scholar 

  27. Barbe F, Quera-Salva MA, McCann C et al (1994) Sleep-related respiratory disturbances in patients with Duchenne muscular dystrophy. Eur Respir J 7:1403–1408. doi:10.1183/09031936.94.07081403

    Article  CAS  PubMed  Google Scholar 

  28. Bye PT, Ellis ER, Issa FG, Donnelly PM, Sullivan CE (1990) Respiratory failure and sleep in neuromuscular disease. Thorax 45:241–247. doi:10.1136/thx.45.4.241

    Article  CAS  PubMed  Google Scholar 

  29. Ragette R, Mellies U, Schwake C, Voit T, Teschler H (2002) Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax 57:724–728. doi:10.1136/thorax.57.8.724

    Article  CAS  PubMed  Google Scholar 

  30. Hukins CA, Hillman DR (2000) Daytime predictors of sleep hypoventilation in Duchenne Muscular Dystrophy. Am J Respir Crit Care Med 161:166–170

    CAS  PubMed  Google Scholar 

  31. Labanowski M, Schmidt-Nowara W, Guilleminault C (1996) Sleep and neuromuscular disease: frequency of sleep-disordered breathing in a neuromuscular disease clinic population. Neurology 47:1173–1180

    CAS  PubMed  Google Scholar 

  32. Ferguson KA, Strong MJ, Ahmad D, George CF (1996) Sleep-disordered breathing in amyotrophic lateral sclerosis. Chest 110:664–669. doi:10.1378/chest.110.3.664

    Article  CAS  PubMed  Google Scholar 

  33. Culebras A (2005) Sleep disorders and neuromuscular disease. Semin Neurol 25:33–38. doi:10.1055/s-2005-867071

    Article  PubMed  Google Scholar 

  34. Weinberg J, Klefbeck B, Borg J, Svanborg E (2003) Polysomnography in chronic neuromuscular disease. Respiration 70:349–354. doi:10.1159/000072896

    Article  CAS  PubMed  Google Scholar 

  35. Kiliaris S, Katsaros C (1998) The effects of myotonic dystrophy and Duchenne muscular dystrophy on the orofacial muscles and dentofacial morphology. Acta Odontol Scand 5:369–374. doi:10.1080/000163598428347

    Article  Google Scholar 

  36. Dematteis M, Pepin JL, Jeanmart M, Deschaux C, Labarre-Villa A, Levy P (2001) Charcot-Marie-Tooth disease and sleep apnea syndrome: a family study. Lancet 357:267–272. doi:10.1016/S0140-6736(00)03614-X

    Article  CAS  PubMed  Google Scholar 

  37. American Academy of Sleep Medicine Task Force (1999) Sleep related breathing disorders in adult. Sleep 22:667–689

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Esen Kiyan.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kiyan, E., Okumus, G., Cuhadaroglu, C. et al. Sleep apnea in adult myotonic dystrophy patients who have no excessive daytime sleepiness. Sleep Breath 14, 19–24 (2010). https://doi.org/10.1007/s11325-009-0270-6

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11325-009-0270-6

Keywords

Navigation