Sleep and Breathing

, Volume 15, Issue 1, pp 99–106 | Cite as

Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas

  • Giacomo Della Marca
  • Francesca Pantanali
  • Roberto Frusciante
  • Emanuele Scarano
  • Alessandro Cianfoni
  • Lea Calò
  • Serena Dittoni
  • Catello Vollono
  • Anna Losurdo
  • Elisa Testani
  • Salvatore Colicchio
  • Valentina Gnoni
  • Elisabetta Iannaccone
  • Benedetto Farina
  • Tommaso Pirronti
  • Pietro A. Tonali
  • Enzo Ricci
Original Article
First Online:
Received:
Revised:
Accepted:

Abstract

Purposes

The purposes of the study are: (1) to establish if cephalometry and upper airway examination may provide tools for detecting facioscapulohumeral (FSHD) patients at risk for obstructive sleep apnea syndrome (OSAS); and (2) to correlate cephalometry and otorhinolaryngologic evaluation with clinical and polysomnographic features of FHSD patients with OSAS.

Methods

Patients were 13 adults affected by genetically confirmed FSHD and OSAS, 11 men, with mean age 47.1 ± 12.8 years (range, 33–72 years). All underwent clinical evaluation, Manual Muscle Test, Clinical Severity Scale for FSHD, Epworth Sleepiness Scale, polysomnography, otorhinolaryngologic evaluation, and cephalometry.

Results

Cephalometric evidence of pharyngeal narrowing [posterior airways space (PAS) < 10 mm] was present in only one patient. The mandibular planus and hyoid (MP-H) distance ranged from 6.5 to 33.1 mm (mean, 17.5 ± 7.8 mm). The mean length of soft palate (PNS-P) was 31.9 ± 4.8 mm (range, 22.2 to 39.7 mm). No patient presented an ANB angle > 7°. There was no significant correlation between cephalometric measures, clinical scores, and PSG indexes. PAS and MP-H were not related to the severity of the disease.

Conclusions

Upper airway morphological evaluation is of poor utility in the clinical assessment of FSHD patients and do not allow to predict the occurrence of sleep-related upper airway obstruction. This suggests that the pathogenesis of OSAS in FSHD is dependent on the muscular impairment, rather than to the anatomy of upper airways.

Keywords

Cephalometry Facioscapulohumeral muscular dystrophy Sleep Body mass index Obstructive sleep apnea syndrome Polysomnography 
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References

  1. 1.
    Deidda G, Cacurri S, Piazzo N, Felicetti L (1996) Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 33:361–365PubMedCrossRefGoogle Scholar
  2. 2.
    Kilmer DD, Abresch RT, McCrory MA, Carter GT, Fowler WM Jr, Johnson ER, McDonald CM (1995) Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy. Am J Phys Med Rehabil 74:S131–139PubMedCrossRefGoogle Scholar
  3. 3.
    Padberg G (1982) Facioscapulohumeral disease. Leyden University, LeydenGoogle Scholar
  4. 4.
    Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R, van Ommen GJB, Padberg GW, Frants RR (1992) Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2:26–30PubMedCrossRefGoogle Scholar
  5. 5.
    Padberg GW, Lunt PW, Koch M, Fardeau M (1991) Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1:231–234PubMedCrossRefGoogle Scholar
  6. 6.
    Dhand UK, Dhand R (2006) Sleep disorders in neuromuscular diseases. Curr Opin Pulm Med 12:402–408PubMedCrossRefGoogle Scholar
  7. 7.
    Gozal D (2000) Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy. Pediatr Pulmonol 29:141–150PubMedCrossRefGoogle Scholar
  8. 8.
    Khan Y, Heckmatt JZ (1994) Obstructive apnoeas in Duchenne muscular dystrophy. Thorax 49:157–161PubMedCrossRefGoogle Scholar
  9. 9.
    Smith PE, Edwards RH, Calverley PM (1989) Ventilation and breathing pattern during sleep in Duchenne muscular dystrophy. Chest 96:1346–1351PubMedCrossRefGoogle Scholar
  10. 10.
    Coccagna G, Martinelli P, Lugaresi E (1982) Sleep and alveolar hypoventilation in myotonic dystrophy. Acta Neurol Belg 82:185–194PubMedGoogle Scholar
  11. 11.
    Kiyan E, Okumus G, Cuhadaroglu C, Deymeer F (2009) Sleep apnea in adult myotonic dystrophy patients who have no excessive daytime sleepiness. Sleep Breath. doi: 10.1007/s11325-009-0270-6 PubMedGoogle Scholar
  12. 12.
    Dohna-Schwake C, Ragette R, Mellies U, Straub V, Teschler H, Voit T (2004) Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I. Neurology 62:513–514PubMedCrossRefGoogle Scholar
  13. 13.
    Della Marca G, Frusciante R, Dittoni S, Vollono C, Buccarella C, Iannaccone E, Rossi M, Scarano E, Pirronti T, Cianfoni A, Mazza S, Tonali PA, Ricci E (2009) Sleep disordered breathing in facioscapulohumeral muscular dystrophy. J Neurol Sci 285:54–58PubMedCrossRefGoogle Scholar
  14. 14.
    Pillar G, Peled N, Katz N, Lavie P (1994) Predictive value of specific risk factors, symptoms and signs, in diagnosing obstructive sleep apnoea and its severity. J Sleep Res 3:241–244PubMedCrossRefGoogle Scholar
  15. 15.
    Fleetham J, Ayas N, Bradley D, Ferguson K, Fitzpatrick M, George C, Hanly P, Hill F, Kimoff J, Kryger M, Morrison D, Series F, Tsai W (2007) [Practice Guidelines of the Canadian Thoracic Society on the diagnosis and treatment of sleep respiratory problems of adults]. Can Respir J 14:31–36PubMedCentralPubMedGoogle Scholar
  16. 16.
    Adult Obstructive Sleep Apnea Task Force of the American Academy of Sleep Medicine (2009) Clinical guideline for the evaluation, management and long-term care of obstructive sleep apnea in adults. J Clin Sleep Med 5:263–276Google Scholar
  17. 17.
    Riley R, Guilleminault C, Herran J, Powell N (1983) Cephalometric analyses and flow-volume loops in obstructive sleep apnea patients. Sleep 6:303–311PubMedGoogle Scholar
  18. 18.
    Tsai HH, Ho CY, Lee PL, Tan CT (2007) Cephalometric analysis of nonobese snorers either with or without obstructive sleep apnea syndrome. Angle Orthod 77:1054–1061PubMedCrossRefGoogle Scholar
  19. 19.
    Yu X, Fujimoto K, Urushibata K, Matsuzawa Y, Kubo K (2003) Cephalometric analysis in obese and nonobese patients with obstructive sleep apnea syndrome. Chest 124:212–218PubMedCrossRefGoogle Scholar
  20. 20.
    Julia-Serda G, Perez-Penate G, Saavedra-Santana P, Ponce-Gonzalez M, Valencia-Gallardo JM, Rodriguez-Delgado R, Cabrera-Navarro P (2006) Usefulness of cephalometry in sparing polysomnography of patients with suspected obstructive sleep apnea. Sleep Breath 10:181–187PubMedCrossRefGoogle Scholar
  21. 21.
    Petri N, Suadicani P, Wildschiodtz G, Bjorn-Jorgensen J (1994) Predictive value of Muller maneuver, cephalometry and clinical features for the outcome of uvulopalatopharyngoplasty. Evaluation of predictive factors using discriminant analysis in 30 sleep apnea patients. Acta Otolaryngol 114:565–571PubMedCrossRefGoogle Scholar
  22. 22.
    Guilleminault C, Riley R, Powell N (1984) Obstructive sleep apnea and abnormal cephalometric measurements. Implications for treatment. Chest 86:793–794PubMedCrossRefGoogle Scholar
  23. 23.
    American Academy of Sleep Medicine Task Force (1999) Sleep-related breathing disorders in adults: recommendations for syndrome definition and measurement techniques in clinical research. The report of an American Academy of Sleep Medicine Task Force. Sleep 22:667–689Google Scholar
  24. 24.
    Young T, Palta M, Dempsey J, Skatrud J, Weber S, Badr S (1993) The occurrence of sleep-disordered breathing among middle-aged adults. N Engl J Med 328:1230–1235PubMedCrossRefGoogle Scholar
  25. 25.
    Cacurri S, Piazzo N, Deidda G, Vigneti E, Galluzzi G, Colantoni L, Merico B, Ricci E, Felicetti L (1998) Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy. Am J Hum Genet 63:181–190PubMedCentralPubMedCrossRefGoogle Scholar
  26. 26.
    Vignatelli L, Plazzi G, Barbato A, Ferini-Strambi L, Manni R, Pompei F, D’Alessandro R (2003) Italian version of the Epworth Sleepiness Scale: external validity. Neurol Sci 23:295–300PubMedCrossRefGoogle Scholar
  27. 27.
    Medical Research Council (1976) Aids to examination of the peripheral nervous system. Her Majesty’s Stationery Office, LondonGoogle Scholar
  28. 28.
    Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, Piazzo N, Servidei S, Vigneti E, Pasceri V, Silvestri G, Mirabella M, Mangiola F, Tonali P, Felicetti L (1999) Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann Neurol 45:751–757PubMedCrossRefGoogle Scholar
  29. 29.
    Fiz JA, Haro M, Aguilar J, Alvarez J, Abad J, Monso E, Morera J (1993) Spirometry and maximal respiratory pressures in patients with facial paralysis. Chest 103:170–173PubMedCrossRefGoogle Scholar
  30. 30.
    Wohlgemuth M, van der Kooi EL, Hendriks JC, Padberg GW, Folgering HT (2003) Face mask spirometry and respiratory pressures in normal subjects. Eur Respir J 22:1001–1006PubMedCrossRefGoogle Scholar
  31. 31.
    Iber C, Ancoli-Israel S, Chesson A, Quan SF (2007) The AASM manual for scoring of sleep and associated events: rules, terminology and technical specifications, 1st edn. American Academy of Sleep Medicine, WestchesterGoogle Scholar
  32. 32.
    Mallampati SR, Gatt SP, Gugino LD, Desai SP, Waraksa B, Freiberger D, Liu PL (1985) A clinical sign to predict difficult tracheal intubation: a prospective study. Can Anaesth Soc J 32:429–434PubMedCrossRefGoogle Scholar
  33. 33.
    Fujita S, Woodson BT, Clark JL, Wittig R (1991) Laser midline glossectomy as a treatment for obstructive sleep apnea. Laryngoscope 101:805–809PubMedCrossRefGoogle Scholar
  34. 34.
    Kushida CA, Littner MR, Hirshkowitz M, Morgenthaler TI, Alessi CA, Bailey D, Boehlecke B, Brown TM, Coleman J Jr, Friedman L, Kapen S, Kapur VK, Kramer M, Lee-Chiong T, Owens J, Pancer JP, Swick TJ, Wise MS (2006) Practice parameters for the use of continuous and bilevel positive airway pressure devices to treat adult patients with sleep-related breathing disorders. Sleep 29:375–380PubMedGoogle Scholar
  35. 35.
    Della Marca G, Frusciante R, Vollono C, Dittoni S, Tonali PA, Ricci E (2009) Mouth leaks may complicate positive airway pressure treatment of OSAS in facioscapulohumeral muscular dystrophy. Sleep Med 10:147–149PubMedCrossRefGoogle Scholar
  36. 36.
    Stubgen JP (2008) Facioscapulohumeral muscular dystrophy: a radiologic and manometric study of the pharynx and esophagus. Dysphagia 23:341–347PubMedCrossRefGoogle Scholar
  37. 37.
    Wohlgemuth M, de Swart BJ, Kalf JG, Joosten FB, Van der Vliet AM, Padberg GW (2006) Dysphagia in facioscapulohumeral muscular dystrophy. Neurology 66:1926–1928PubMedCrossRefGoogle Scholar
  38. 38.
    Riley R, Guilleminault C, Powell N, Simmons FB (1985) Palatopharyngoplasty failure, cephalometric roentgenograms, and obstructive sleep apnea. Otolaryngol Head Neck Surg 93:240–244PubMedGoogle Scholar
  39. 39.
    Partinen M, Guilleminault C, Quera-Salva MA, Jamieson A (1988) Obstructive sleep apnea and cephalometric roentgenograms. The role of anatomic upper airway abnormalities in the definition of abnormal breathing during sleep. Chest 93:1199–1205PubMedCrossRefGoogle Scholar
  40. 40.
    Finkelstein Y, Wexler D, Horowitz E, Berger G, Nachmani A, Shapiro-Feinberg M, Ophir D (2001) Frontal and lateral cephalometry in patients with sleep-disordered breathing. Laryngoscope 111:634–641PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Giacomo Della Marca
    • 1
    • 9
  • Francesca Pantanali
    • 2
  • Roberto Frusciante
    • 1
  • Emanuele Scarano
    • 3
  • Alessandro Cianfoni
    • 4
  • Lea Calò
    • 3
  • Serena Dittoni
    • 1
  • Catello Vollono
    • 5
  • Anna Losurdo
    • 1
  • Elisa Testani
    • 1
  • Salvatore Colicchio
    • 1
  • Valentina Gnoni
    • 1
  • Elisabetta Iannaccone
    • 1
  • Benedetto Farina
    • 6
  • Tommaso Pirronti
    • 7
  • Pietro A. Tonali
    • 1
    • 8
  • Enzo Ricci
    • 1
    • 8
  1. 1.Department of NeurosciencesCatholic UniversityRomeItaly
  2. 2.Department of OrthodonticsCatholic UniversityRomeItaly
  3. 3.Institute of OtorhinolaryngologyCatholic UniversityRomeItaly
  4. 4.Neuroradiology Section, Department of RadiologyMUSC-Medical University of South CarolinaCharlestonUSA
  5. 5.Ospedale Pediatrico “Bambino Gesù” IRCCSRomeItaly
  6. 6.Facoltà di PsicologiaUniversità EuropeaRomeItaly
  7. 7.Department of Bioimaging and Radiological SciencesCatholic UniversityRomeItaly
  8. 8.Fondazione ‘Pro Juventute’ Don Carlo GnocchiRomeItaly
  9. 9.Policlinico Universitario “A. Gemelli”RomeItaly

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