Skip to main content
Log in

Genetics correlates with lung function and nocturnal ventilation in myotonic dystrophy

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



Dystrophia myotonica (DM) is the most frequent adult-onset muscular dystrophy. Type 1 is caused by the cytosine–thymine–guanine (CTG) repeat expansion in the DM protein kinase gene. Respiratory muscle weakness and altered central ventilatory control lead to hypercapnia and lung volume restriction.


This study aims to review the respiratory involvement in DM patients and study its relation with genetics.


Retrospective study of patients with DM referred for respiratory assessment was made. Noninvasive ventilation (NIV) was considered to daytime hypercapnia or symptoms of nocturnal hypoventilation.


Forty-two consecutive patients (37.9 ± 13.6 years) were evaluated. Mean CTG length was 642.8 ± 439.2 repeats. In the first evaluation, mean forced vital capacity (FVC) was 74.4 ± 20.2 %, maximal expiratory pressure (MEP) 35 ± 16 %, maximal inspiratory pressure 52 ± 23 %, peak cough flow (PCF) 327.3 ± 97.7 L/min, arterial pressure of oxygen 79.7 ± 11.3 mmHg, arterial pressure of carbon dioxide 45.5 ± 6.2 mmHg, overnight minimal peripheral oxygen saturation (SpO2) 79.6 ± 11.6 %, and apnea–hypopnea index 13.9 ± 9.9. CTG length was found to be related with MEP (r = −0.67; p = 0.001) and SpO2 (r = −0.37; p = 0.039). NIV was started in 25 patients. Ventilated patients had lower FVC (2.19 to 3.21 L; p < 0.001) and PCF (285.3 to 388.5 L/min; p = 0.003) and more CTG repeats (826.6 to 388.5 repeats; p = 0.02). NIV compliance was poor in seven patients (28 %) and related with hypercapnia (r = 0.87; p = 0.002) and inspiratory positive airway pressure setting (r = 0.65; p = 0.009). Ventilation improved symptoms and nocturnal hypoventilation. Comparing the first and last evaluations, only PCF was significantly lower (275.0 to 310.8 L/min; p = 0.019).


Ventilatory insufficiency is very common in patients with DM and CTG length may be useful to predict it. Prolonged NIV improves symptoms, nocturnal hypoventilation and maintains daily blood gases. Routine evaluation of PCF should not be forgotten and assisted coughing training provided.

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.

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others


  1. Mc Kim A, Road J, Avendano M, Abdool S, Côté F, Duguid N, Fraser J, Maltais F, Morrison DL, O’Connell C, Petrof BJ, Rimmer K, Skomro R (2011) Home medical ventilation: a Canadian thoracic society clinical practice guideline. Can Respir J 18(4):197–215

    Google Scholar 

  2. Siciliano G, Manca ML, Gennarelli M, Angelini C, Rucchi A, Iudice A, Miorin M, Mostacciuolo ML (2001) Epidemiology of myotonic dystrophy in Italy: re-appraisal after genetic diagnosis. Clin Genet 59:344–349

    Article  PubMed  CAS  Google Scholar 

  3. Huang CC, Kuo HC (2005) Myotonic dystrophies. Chang Gung Med J 28:517–526

    PubMed  Google Scholar 

  4. Marchini C, Lonigro R, Verriello L, Pellizzari L, Bergonzi P, Damante G (2000) Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy. Clin Genet 57:74–82

    Article  PubMed  CAS  Google Scholar 

  5. Bégin 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

    Article  PubMed  Google Scholar 

  6. Ugalde V, Walsh S, Abresch RT, Bonekat HW, Breslin E (2001) Respiratory abdominal muscle recruitment and chest wall motion in myotonic muscular dystrophy. J Appl Physiol 91:395–407

    PubMed  CAS  Google Scholar 

  7. Bach JR, Kang SW (2000) Disorders of ventilation: weakness, stiffness and mobilization. Chest 117(2):301–303

    Article  PubMed  CAS  Google Scholar 

  8. Kiyan E, Okumus G, Cuhadaroglu C, Deymeer F (2009) Sleep apnea in adult myotonic dystrophy patients who have no excessive daytime sleepiness. Sleep Breath 14:19–24

    Article  PubMed  Google Scholar 

  9. Ward S, Chatwin M, Heather S, Simonds AK (2005) Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax 60:1019–1024

    Article  PubMed  CAS  Google Scholar 

  10. Mathieu J, Allard P, Potvin L, Prévost C, Bégin P (1999) A 10 year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 52:1658–1662

    Article  PubMed  CAS  Google Scholar 

  11. Tzeng AC, Bach JR (2000) Prevention of pulmonary morbidity for patients with neuromuscular disease. Chest 118:1390–1396

    Article  PubMed  CAS  Google Scholar 

  12. Annane D, Orlikowski D, Chevret S, Chevrolet JC, Raphael JC (2007) Nocturnal mechanical ventilation for chronic hypoventilation in patients with neuromuscular and chest wall disorders. Cochrane Database of Systematic Reviews Issue 4. Art. No.: CD001914

  13. Bach JR (2004) Management of patients with neuromuscular disease. Hanley & Belfus, Philadelphia

    Google Scholar 

  14. Bach JC, Gonçalves M (2006) Pulmonary rehabilitation in neuromuscular disorders and spinal cord injury. Rev Port Pneumol 12(1):27–44

    Google Scholar 

  15. Kaminsky P, Poussel M, Pruna L, Deibener J, Chenuel B, Brembilla-Perrot B (2011) Organ dysfunction and muscular disability in myotonic dystrophy type 1. Med (Baltimore) 90(4):262–268

    Article  Google Scholar 

  16. Lunteren EV, Kaminski HJ (1999) Disorders of sleep and breathing during sleep in neuromuscular disease. Sleep and Breathing 3(1):23–30

    Article  PubMed  Google Scholar 

  17. Nugent AM, Smith IE, Shneerson JM (2002) Domiciliary-assisted ventilation in patients with myotonic dystrophy. Chest 121:459–464

    Article  PubMed  Google Scholar 

  18. Bach JR (2007) Avoiding respiratory failure in neuromuscular disease: why is it not done? Am J Phys Med Rehabil 86:222–224

    Article  PubMed  Google Scholar 

Download references


We would like to thank the careful editing of Wendy Chesworth (University of Canberra, Australia).

Conflict of interest

There is no conflict of interest.

Author information

Authors and Affiliations


Corresponding author

Correspondence to Regina Monteiro.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Monteiro, R., Bento, J., Gonçalves, M.R. et al. Genetics correlates with lung function and nocturnal ventilation in myotonic dystrophy. Sleep Breath 17, 1087–1092 (2013).

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: