Sleep disordered breathing in facioscapulohumeral muscular dystrophy

Journal of the Neurological Sciences

Volumn 285, Issue 1-2, 2009, Pages 54-58

  Della Marca, Giacomo ^a   Frusciante, Roberto ^a   Dittoni, Serena ^a   Vollono, Catello ^a,b   Buccarella, Cristina ^a   Iannaccone, Elisabetta ^a   Rossi, Monica ^c   Scarano, Emanuele ^d   Pirronti, Tommaso ^d   Cianfoni, Alessandro ^e   Mazza, Salvatore ^a   Tonali, Pietro A ^a,c   Ricci, Enzo ^a,c  

^a FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c Fondazione 'Pro Juventute' Don Carlo Gnocchi   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

Body mass index; Facioscapulohumeral muscular dystrophy; Polysomnography; Sleep; Sleep disordered breathing; Sleepiness

Indexed keywords

ADULT; AIRWAY PRESSURE; ARTICLE; BODY MASS; BREATHING DISORDER; CLINICAL EXAMINATION; CONTROLLED STUDY; DAYTIME SOMNOLENCE; DISEASE SEVERITY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENETIC SCREENING; HUMAN; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; POLYSOMNOGRAPHY; PREVALENCE; PRIORITY JOURNAL; SLEEP DISORDER;

ADULT; AGED; BODY MASS INDEX; CEPHALOMETRY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; NECK; NEUROLOGIC EXAMINATION; POLYSOMNOGRAPHY; POSITIVE-PRESSURE RESPIRATION; PREVALENCE; QUESTIONNAIRES; RESPIRATION; SEVERITY OF ILLNESS INDEX; SLEEP APNEA SYNDROMES; SLEEP APNEA, OBSTRUCTIVE; WAKEFULNESS;

EID: 69549097634     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2009.05.014     Document Type: Article

References (34)

1. Wijmenga C., Hewitt J.E., Sandkuijl L.A., Clark L.N., Wright T.J., Dauwerse H.G., Gruter A.M., Hofker M.H., Moerer P., Williamson R., et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2 (1992) 26-30
2. Ricci E., Galluzzi G., Deidda G., Cacurri S., Colantoni L., Merico B., et al. 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 (1999) 751-757
3. Tawil R., and Van Der Maarel S.M. Facioscapulohumeral muscular dystrophy. Muscle Nerve 34 (2006) 1-15
4. Padberg G.W., Brouwer O.F., de Keizer R.J., Dijkman G., Wijmenga C., Grote J.J., et al. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 2 (1995) S73-80
5. Wohlgemuth M., van der Kooi E.L., van Kesteren R.G., van der Maarel S.M., and Padberg G.W. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology 63 (2004) 176-178
6. Dhand U.K., and Dhand R. Sleep disorders in neuromuscular diseases. Curr Opin Pulm Med 12 (2006) 402-408
7. Gozal D. Pulmonary manifestations of neuromuscular disease with special reference to duchenne muscular dystrophy and spinal muscular atrophy. Pediatr Pulmonol 29 (2000) 141-150
8. Guilleminault C., Stoohs R., and Quera-Salva M.A. Sleep-related obstructive and nonobstructive apneas and neurologic disorders. Neurology 42 (1992) 53-60
9. Khan Y., and Heckmatt J.Z. Obstructive apnoeas in duchenne muscular dystrophy. Thorax 49 (1994) 157-161
10. Smith P.E., Edwards R.H., and Calverley P.M. Ventilation and breathing pattern during sleep in duchenne muscular dystrophy. Chest 96 (1989) 1346-1351
11. Coccagna G., Martinelli P., and Lugaresi E. Sleep and alveolar hypoventilation in myotonic dystrophy. Acta Neurol Belg 82 (1982) 185-194
12. Dohna-Schwake C., Ragette R., Mellies U., Straub V., Teschler H., and Voit T. Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2i. Neurology 62 (2004) 513-514
13. Sivak E.D., Shefner J.M., and Sexton J. Neuromuscular disease and hypoventilation. Curr Opin Pulm Med 5 (1999) 355-362
14. Della Marca G., Frusciante R., Vollono C., Dittoni S., Galluzzi G., Buccarella C., et al. Sleep quality in facioscapulohumeral muscular dystrophy. J Neurol Sci 263 (2007) 49-53
15. Padberg G.W., Lunt P.W., Koch M., and Fardeau M. Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1 (1991) 231-234
16. Cacurri S., Piazzo N., Deidda G., Vigneti E., Galluzzi G., Colantoni L., et al. 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 (1998) 181-190
17. Deidda G., Cacurri S., Piazzo N., and Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (fshd). J Med Genet 33 (1996) 361-365
18. Medical research council. Aids to examination of the peripheral nervous system (1976), Her Majesty's Stationery Office London, London
19. Buysse D.J., Reynolds III C.F., Monk T.H., Berman S.R., and Kupfer D.J. The pittsburgh sleep quality index: a new instrument for psychiatric practice and research. Psychiatry Res 28 (1989) 193-213
20. Vignatelli L., Plazzi G., Barbato A., Ferini-Strambi L., Manni R., Pompei F., et al. Italian version of the epworth sleepiness scale: external validity. Neurol Sci 23 (2003) 295-300
21. Pillar G., Peled N., Katz N., and Lavie P. Predictive value of specific risk factors, symptoms and signs, in diagnosing obstructive sleep apnoea and its severity. J Sleep Res 3 (1994) 241-244
22. Iber C., Ancoli-Israel S., Chesson A., and Quan S.F. The AASM manual for scoring of sleep and associated events: rules, terminology and technical specifications. 1st ed. (2007), American Academy of Sleep Medicine, Westchester, IL
23. Eeg arousals: scoring rules and examples: a preliminary report from the Sleep Disorders Atlas Task Force of the American Sleep Disorders Association. Sleep 15 (1992) 173-184
24. 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 (1999) 667-689
25. Mallampati S.R., Gatt S.P., Gugino L.D., Desai S.P., Waraksa B., Freiberger D., et al. A clinical sign to predict difficult tracheal intubation: a prospective study. Can Anaesth Soc J 32 (1985) 429-434
26. Fujita S., Woodson B.T., Clark J.L., and Wittig R. Laser midline glossectomy as a treatment for obstructive sleep apnea. Laryngoscope 101 (1991) 805-809
27. Riley R., Guilleminault C., Herran J., and Powell N. Cephalometric analyses and flow-volume loops in obstructive sleep apnea patients. Sleep 6 (1983) 303-311
28. Young T., Palta M., Dempsey J., Skatrud J., Weber S., and Badr S. The occurrence of sleep-disordered breathing among middle-aged adults. N Engl J Med 328 (1993) 1230-1235
29. Perrin C., Unterborn J.N., Ambrosio C.D., and Hill N.S. Pulmonary complications of chronic neuromuscular diseases and their management. Muscle Nerve 29 (2004) 5-27
30. Kushida C.A., Littner M.R., Hirshkowitz M., Morgenthaler T.I., Alessi C.A., Bailey D., et al. Practice parameters for the use of continuous and bilevel positive airway pressure devices to treat adult patients with sleep-related breathing disorders. Sleep 29 (2006) 375-380
31. Kilmer D.D., Abresch R.T., McCrory M.A., Carter G.T., Fowler Jr. W.M., Johnson E.R., et al. Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy. Am J Phys Med Rehabil 74 (1995) S131-139
32. Rupprecht S., Hagemann G., Witte O.W., and Schwab M. Alveolar hypoventilation as an early symptom of muscle weakness in facioscapulohumeral muscular dystrophy. Sleep Med 10 5 (2008) 592-593
33. Fiz J.A., Haro M., Aguilar J., Alvarez J., Abad J., Monso E., et al. Spirometry and maximal respiratory pressures in patients with facial paralysis. Chest 103 (1993) 170-173
34. Wohlgemuth M., van der Kooi E.L., Hendriks J.C., Padberg G.W., and Folgering H.T. Face mask spirometry and respiratory pressures in normal subjects. Eur Respir J 22 (2003) 1001-1006