Sleep and Breathing

, Volume 15, Issue 1, pp 99–106

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

DOI: 10.1007/s11325-010-0330-y

Cite this article as:
Della Marca, G., Pantanali, F., Frusciante, R. et al. Sleep Breath (2011) 15: 99. doi:10.1007/s11325-010-0330-y
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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 

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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