Filiz KOÇ, Burcu EVLİCE, Damla SOYDAN ÇABUK, Hazal DUYAN

Three-dimensional assessment of pharyngeal airway in individuals with myotonic dystrophy type 1

Background/aim: The objectives of this study were to assess pharyngeal airway volume (PAV) in patients with myotonic dystrophy type 1 (DM1) by cone-beam computerized tomography (CBCT) and to evaluate the impact of diaphragm thickness and pulmonary function tests on PAV. Materials and methods: Thirty DM1 patients (10 female and 20 male; mean age 42.40 ± 12.07) were included in the study. Age and sex-matched thirty patients were participated as control group. In DM1 group pulmonary function tests (PFT) were performed. Independent t-test was used to compare PAV values of patients with DM1 and control group. The Mann–Whitney U test was used to compare the parameters according to sex (p < 0.05). Pearson and Spearman correlation tests were used to evaluate the relationships between parameters of DM1 patients (p < 0.05). A multiple linear regression analysis was performed to explain the PAV with parameters that showed positive correlation with PAV. Results: Age of onset and disease duration were 22.37 ± 8.45 and 20.03 ± 12.08, respectively, in patients with DM1. PAV values of control group were significantly lower than DM1 group (p < 0.001). Forced expiratory volume in 1 s and forced volume vital capacity values were higher in males than females in DM1 group according to sex (p < 0.001). PAV values were greater in male patients than females of the DM1 group (p = 0.022). Diaphragm thickness in DM1 group after inspiration and expiration were 2.60 ± 0.65 and 1.94 ± 0.40, respectively. According to the regression analysis, DTai and FVC were significantly explained the PAV. Conclusion: PAV was higher in DM1 group. There was a significant positive correlation between diaphragm thickness, pulmonary functions, and PAVs of DM1 patients. The amount of the PAV was mostly influenced by DTai and FVC. It is recommended to evaluate the PAV in patients with DM1 because of impaired respiratory functions and pharyngeal muscle involvement.Key words: Cone beam computed tomography, myotonic dystrophy type 1, pharyngeal airway, pulmonary function

PDF

___

1. Harley HG, Brook JD, Rundle SA, Crow S, Reardon W et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992; 355 (6360): 545- 546. doi: 10.1038/355545a0
2. Theadom A, Rodrigues M, Roxburgh R, Balalla S, Higgins C et al. Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology 2014; 43 (3-4): 259-268. doi: 10.1159/000369343
3. Emery AE. Diagnostic criteria for neuromuscular disorders. 2nd ed. London, UK: Royal society of medicine press; 1997.
4. Harley HG, Rundle S, MacMillan J, Myring J, Brook J et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. American Journal of Human Genetics 1993; 52 (6): 1164-1174.
5. Kroksmark AK, Ekström AB, Björck E, Tulinius M. Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG‐repeat sequence. Developmental Medicine & Child Neurology 2005; 47 (7): 478-485. doi: 10.1017/s0012162205000927
6. Mathieu J, Allard P, Potvin L, Prevost C, Begin P. A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 1999; 52 (8): 1658-1662. doi: 10.1212/wnl.52.8.1658
7. Poussel M, Thil C, Kaminsky P, Mercy M, Gomez E et al. Lack of correlation between the ventilatory response to CO2 and lung function impairment in myotonic dystrophy patients: evidence for a dysregulation at central level. Neuromuscular Disorders 2015; 25 (5): 403-408. doi: 10.1016/j.nmd.2015.02.006
8. Serisier D, Mastaglia F, Gibson G. Respiratory muscle function and ventilatory control I in patients with motor neurone disease II in patients with myotonic dystrophy. QJM: An International Journal of Medicine 1982; 51 (2): 205-226.
9. Shahrizaila N, Kinnear W, Wills A. Respiratory involvement in inherited primary muscle conditions. Journal of Neurology, Neurosurgery & Psychiatry 2006; 77 (10): 1108-1115. doi:
10.1136/jnnp.2005.078881 10. Castro-Silva L, Monnazzi MS, Spin-Neto R, Moraes M, Miranda S et al. Cone-beam evaluation of pharyngeal airway space in class I, II, and III patients. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 2015; 120 (6): 679-683. doi: 10.1016/j.oooo.2015.07.006
11. Dahlbom K, Ahlström G, Barany M, Kihlgren A, Gunnarsson L-G. Muscular dystrophy in adults: a five-year follow-up. Scandinavian Journal of Rehabilitation Medicine 1999; 31 (3): 178-184. doi: 10.1080/003655099444524
12. Boström K, Nätterlund BS, Ahlström G. Sickness impact in people with muscular dystrophy: a longitudinal study over 10 years. Clinical Rehabilitation 2005; 19 (6): 686-694. doi: 10.1191/0269215505cr866oa
13. Tuikka RA, Laaksonen RK, Somer HV. Cognitive function in myotonic dystrophy: a follow-up study. European Neurology 1993; 33 (6): 436-441. doi: 10.1159/000116989
14. Turner C, Hilton-Jones D. Myotonic dystrophy: diagnosis, management and new therapies. Current Opinion in Neurology 2014; 27 (5): 599-606. doi: 10.1097/WCO.0000000000000128
15. Anandarajah S, Abdalla Y, Dudhia R, Sonnesen L. Proposal of new upper airway margins in children assessed by CBCT. Dentomaxillofacial Radiology 2015; 44 (7): 20140438. doi: 10.1259/dmfr.20140438
16. Harper P. Myotonic dystrophy. 2nd ed. Oxford, UK: Oxford University Press; 2009.
17. Meola G, Cardani R. Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 2015; 1852 (4): 594-606. doi: 10.1016/j. bbadis.2014.05.019
18. Rossi S, Della Marca G, Ricci M, Perna A, Nicoletti TF et al. Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study. Journal of the Neurological Sciences 2019; 399: 118-124. doi: 10.1016/j. jns.2019.02.012
19. Sansone V, Gagnon C. 207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: management and implications for research, 27–29 June 2014, Naarden, The Netherlands. Neuromuscular Disorders 2015; 25 (5): 432-442. doi: 10.1016/j.nmd.2015.01.011
20. Deenen JC, Horlings CG, Verschuuren JJ, Verbeek AL, van Engelen BG. The epidemiology of neuromuscular disorders: a comprehensive overview of the literature. Journal of Neuromuscular Diseases 2015; 2 (1): 73-85.
21. Hawkins A, Hawkins CL, Razak KA, Khoo TK, Tran K et al. Respiratory dysfunction in myotonic dystrophy type 1: a systematic review. Neuromuscular Disorders 2019; 29 (3): 198- 212. doi: 10.1016/j.nmd.2018.12.002
22. Claudino LV, Mattos CT, de Oliveira Ruellas AC, Sant’Anna EF. Pharyngeal airway characterization in adolescents related to facial skeletal pattern: a preliminary study. American Journal of Orthodontics and Dentofacial Orthopedics 2013; 143 (6): 799-809. doi: 10.1016/j.ajodo.2013.01.015
23. Leonard RJ, Kendall KA, Johnson R, McKenzie S. Swallowing in myotonic muscular dystrophy: a videofluoroscopic study. Archives of Physical Medicine and Rehabilitation 2001; 82 (7): 979-985. doi: 10.1053/apmr.2001.23962
24. Umemoto G, Furuya H, Tsuboi Y, Fujioka S, Arahata H et al. Characteristics of tongue and pharyngeal pressure in patients with neuromuscular diseases. Degenerative Neurological and Neuromuscular Disease 2017; 7: 71-78. doi: 10.2147/DNND. S132745
25. Celikoglu M, Bayram M, Sekerci AE, Buyuk SK, Toy E. Comparison of pharyngeal airway volume among different vertical skeletal patterns: a cone-beam computed tomography study. The Angle Orthodontist 2014; 84 (5): 782-787. doi: 10.2319/101013-748.1
26. Aras I, Olmez S, Dogan S. Comparative evaluation of nasopharyngeal airways of unilateral cleft lip and palate patients using three-dimensional and two-dimensional methods. The Cleft Palate-Craniofacial Journal 2012; 49 (6): 75-81. doi: 10.1597/12-004
27. Holberg C, Steinhäuser S, Geis P, Rudzki-Janson I. Conebeam computed tomography in orthodontics: benefits and limitations. Journal of Orofacial Orthopedics/Fortschritte der Kieferorthopädie 2005; 66 (6): 434-444. doi: 10.1007/s00056- 005-0519-z
28. Hatcher DC. Cone beam computed tomography: craniofacial and airway analysis. Sleep Medicine Clinics 2010; 5 (1): 59-70. doi: 10.1016/j.cden.2012.02.002
29. van Vlijmen OJ, Kuijpers MA, Berge SJ, Schols JG, Maal TJ et al. Evidence supporting the use of cone-beam computed tomography in orthodontics. The Journal of the American Dental Association 2012; 143 (3): 241-252. doi: 10.14219/jada. archive.2012.0148
30. Kim H-S, Kim G-T, Kim S, Lee J-W, Kim E-C et al. Threedimensional evaluation of the pharyngeal airway using cone-beam computed tomography following bimaxillary orthognathic surgery in skeletal class III patients. Clinical Oral Investigations 2016; 20 (5): 915-922. doi: 10.1007/s00784-015- 1575-4
31. Aboudara C, Nielsen I, Huang JC, Maki K, Miller AJ et al. Comparison of airway space with conventional lateral headfilms and 3-dimensional reconstruction from cone-beam computed tomography. American Journal of Orthodontics and Dentofacial Orthopedics 2009; 135 (4): 468-479. doi: 10.1016/j. ajodo.2007.04.043
32. Yamashina A, Tanimoto K, Sutthiprapaporn P, Hayakawa Y. The reliability of computed tomography (CT) values and dimensional measurements of the oropharyngeal region using cone beam CT: comparison with multidetector CT. Dentomaxillofacial Radiology 2008; 37 (5): 245-251. doi: 10.1259/dmfr/45926904
33. Van der Meche F, Bogaard J, Van der Sluys J, Schimsheimer R, Ververs C et al. Daytime sleep in myotonic dystrophy is not caused by sleep apnoea. Journal of Neurology, Neurosurgery & Psychiatry 1994; 57 (5): 626-628. doi: 10.1136/jnnp.57.5.626
34. Finnimore A, Jackson R, Morton A, Lynch E. Sleep hypoxia in myotonic dystrophy and its correlation with awake respiratory function. Thorax 1994; 49 (1): 66-70. doi: 10.1136/thx.49.1.66
35. Kumar S, Sword D, Petty RK, Banham S, Patel K. Assessment of sleep studies in myotonic dystrophy. Chronic Respiratory Disease 2007; 4 (1): 15-18. doi: 10.1177/1479972306074480
36. Horner RL. Emerging principles and neural substrates underlying tonic sleep-state-dependent influences on respiratory motor activity. Philosophical Transactions of the Royal Society B: Biological Sciences 2009; 364 (1529): 2553-2564. doi: 10.1098/ rstb.2009.0065
37. Crimi C, Heffler E, Augelletti T, Campisi R, Noto A et al. Utility of ultrasound assessment of diaphragmatic function before and after pulmonary rehabilitation in COPD patients. International Journal of Chronic Obstructive Pulmonary Disease 2018; 13: 3131-3139. doi: 10.2147/COPD.S171134
38. Fayssoil A, Behin A, Ogna A, Mompoint D, Amthor H et al. Diaphragm: pathophysiology and ultrasound imaging in neuromuscular disorders. Journal of Neuromuscular Diseases 2018; 5 (1): 1-10. doi: 10.3233/JND-170276
39. Henke C, Spiesshoefer J, Kabitz H-J, Herkenrath S, Randerath W et al. Characteristics of respiratory muscle involvement in myotonic dystrophy type 1. Neuromuscular Disorders 2020; 30 (1): 17-27. doi: 10.1016/j.nmd.2019.10.011
40. Koc F, Atli G, Menziletoglu SY, Kose S. Antioxidant imbalance in the erythrocytes of Myotonic dystrophy Type 1 patients. Archives of Biochemistry and Biophysics 2020; 680: 108230. doi: 10.1016/j.abb.2019.108230
41. Holmen T, Barrett-Connor E, Clausen J, Holmen J, Bjermer L. Physical exercise, sports, and lung function in smoking versus nonsmoking adolescents. European Respiratory Journal 2002; 19 (1): 8-15. doi: 10.1183/09031936.02.00203502
42. Bhatti U, Laghari ZA, Syed BM. Effect of Body Mass Index on respiratory parameters: A cross-sectional analytical Study. Pakistan Journal of Medical Sciences 2019; 35 (6): 1724- 1729. doi: 10.12669/pjms.35.6.746