Myotonic dystrophy and sleepiness

Sleepiness: Causes, Consequences and Treatment

Volumn , Issue , 2011, Pages 316-328

  Laberge, Luc ^a   Dauvilliers, Yves ^b  

^a UNIVERSITÉ DU QUÉBEC À CHICOUTIMI   (Canada)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84927003387     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1017/CBO9780511762697.030     Document Type: Chapter

References (62)

1. Harper P S. Myotonic Dystrophy(3rd Ed). Philadelphia: W.B. Saunders, 2001.
2. Mathieu J, De Braekeleer M, Prévost C. Genealogical reconstruction of myotonic dystrophy in the Saguenay–Lac-Saint-Jean area (Quebec, Canada). Neurology, 1990; 40:839–42.
3. Harley H G, Brook J D, Rundle S A, et al.Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature, 1992; 355:545–46.
4. Mathieu J, Allard P, Potvin L, et al.A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology, 1999; 52:1658–62.
5. Rohrer K. Ueber myotonia atrophica (dystrophia myotonica). Dtsch Z Nervenheilkd, 1916; 55:242–304.
6. Thomasen E. Myotonia. Denmark: Aarhuus Universitetsforlaget, 1948.
7. Hilton-Jones D. Myotonic dystrophy – forgotten aspects of an often neglected condition. Curr Opin Neurol, 1997; 10:399–401.
8. Quera Salva MA, Blumen M, Jacquette A, et al.Sleep disorders in childhood-onset myotonic dystrophy type 1. Neuromuscul Disord, 2006; 16:564–70.
9. Laberge L, Bégin P, Dauvilliers Y, et al.A polysomnographic study of daytime sleepiness in myotonic dystrophy type 1. J Neurol Neurosurg Psychiatry, 2009; 80:642–46.
10. Hilton-Jones D, Damian MS, Meola G. Somnolence and its management. In: Harper P, van Engelen B, Eymard B, et al., Eds. Myotonic Dystrophy: Present Management, Future Therapy. Oxford:Oxford University Press, 2004: 135–49.
11. Laberge L, Gagnon C, Jean S, et al.Fatigue and daytime sleepiness rating scales in myotonic dystrophy: a study of reliability. J Neurol Neurosurg Psychiatry, 2005;76:1403–05.
12. Laberge L, Bégin P, Montplaisir J, et al.Sleep complaints in patients with myotonic dystrophy. J Sleep Res, 2004; 13:95–100.
13. Park J D, Radtke R A. Hypersomnolence in myotonic dystrophy: demonstration of sleep onset REM sleep. J Neurol Neurosurg Psychiatry, 1995; 58:512–13.
14. Phemister J C, Small JM. Hypersomnia in dystrophia myotonica. J Neurol Neurosurg Psychiatry, 1961; 24:173–75.
15. Leygonie-Goldenberg F, Perrier M, Duizabo P, et al.[Disturbances of wakefulness, sleep and respiratory function in Steinert’s disease]. Rev Neurol (Paris), 1977; 133:255–70.
16. Rubinsztein J S, Rubinsztein D C, Goodburn S, et al.Apathy and hypersomnia are common features of myotonic dystrophy. J Neurol Neurosurg Psychiatry, 1998; 64:510–15.
17. van der Meché F G, Bogaard JM, van der Sluys H C, et al.Daytime sleep in myotonic dystrophy is not caused by sleep apnoea. J Neurol Neurosurg Psychiatry, 1994; 57:626–28.
18. van Hilten J J, Kerkhof G A, van Dijk J G, et al.Disruption of sleep–wake rhythmicity and daytime sleepiness in myotonic dystrophy. J Neurol Sci, 1993; 114:68–75.
19. Dement WC. Tiredness versus sleepiness: semantics or a target for public education? Sleep, 2003; 26:485–86.
20. Kalkman J S, Schillings ML, van der Werf S P, et al.Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. J Neurol Neurosurg Psychiatry, 2005; 76:1406–09.
21. Kalkman J S, Schillings ML, Zwarts M J, et al.Influence of relatives on fatigue experienced by patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Eur Neurol, 2006; 56:24–30.
22. Laberge L, Veillette S, Mathieu J, et al.The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy. Clin Genet, 2007; 71:59–66.
23. Laberge L, Dauvilliers Y, Bégin P, et al.Fatigue and daytime sleepiness in patients with myotonic dystrophy type 1: to lump or split? Neuromuscul Disord, 2009; 19:397–402.
24. Phillips MF, Steer HM, Soldan J R, et al.Daytime somnolence in myotonic dystrophy. J Neurol, 1999; 246:275–82.
25. Winblad S, Lindberg C, Hansen S. Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1). Behav Brain Funct, 2006; 2:16.
26. Manni R, Zucca C, Martinetti M, et al.Hypersomnia in dystrophia myotonica: a neurophysiological and immunogenetic study. Acta Neurol Scand, 1991; 84:498–502.
27. Gilmartin J J, Cooper B G, Griffiths C J, et al.Breathing during sleep in patients with myotonic dystrophy and non-myotonic respiratory muscle weakness. Q J Med, 1991; 78:21–31.
28. Guilleminault C, Philip P, Robinson A. Sleep and neuromuscular disease: bilevel positive airway pressure by nasal mask as a treatment for sleep disordered breathing in patients with neuromuscular disease. J Neurol Neurosurg Psychiatry, 1998; 65:225–32.
29. Kilburn K H, Eagen J T, Heyman A. Cardiopulmonary insufficiency associated with myotonic dystrophy. Am J Med, 1959; 26:929–35.
30. Gibbs J W, 3rd, Ciafaloni E, Radtke R A. Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy. Sleep, 2002; 25:672–75.
31. Giubilei F, Antonini G, Bastianello S, et al.Excessive daytime sleepiness in myotonic dystrophy. J Neurol Sci, 1999; 164:60–63.
32. Ciafaloni E, Mignot E, Sansone V, et al.The hypocretin neurotransmission system in myotonic dystrophy type 1. Neurology, 2008; 70:226–30.
33. Cirignotta F, Mondini S, Zucconi M, et al.Sleep-related breathing impairment in myotonic dystrophy. J Neurol, 1987; 235:80–85.
34. Broughton R, Stuss D, Kates M, et al.Neuropsychological deficits and sleep in myotonic dystrophy. Can J Neurol Sci, 1990; 17:410–15.
35. Martinez-Rodriguez J E, Lin L, Iranzo A, et al.Decreased hypocretin-1 (orexin-A) levels in the cerebrospinal fluid of patients with myotonic dystrophy and excessive daytime sleepiness. Sleep, 2003; 26:287–90.
36. Laberge L, Lacroix G, Bégin P, et al.Psychomotor vigilance performance is associated with objective daytime sleepiness in myotonic dystrophy. J Sleep Res, 2004; 13(Suppl 1):421.
37. Finnimore A J, Jackson R V, Morton A, et al.Sleep hypoxia in myotonic dystrophy and its correlation with awake respiratory function. Thorax, 1994; 49:66–70.
38. Bégin P, Mathieu J, Almirall J, et al.Relationship between chronic hypercapnia and inspiratory-muscle weakness in myotonic dystrophy. Am J Respir Crit Care Med, 1997; 156:133–39.
39. Ono S, Kanda F, Takahashi K, et al.Neuronal loss in the medullary reticular formation in myotonic dystrophy: a clinicopathological study. Neurology, 1996; 46:228–31.
40. Coccagna G, Martinelli P, Lugaresi E. Sleep and alveolar hypoventilation in myotonic dystrophy. Acta Neurol Belg, 1982; 82:185–94.
41. Kiyan E, Okumus G, Cuhadaroglu C, et al.Sleep apnea in adult myotonic dystrophy patients who have no excessive daytime sleepiness. Sleep Breath, 2010; 14:19–24.
42. Kumar S P, Sword D, Petty R K, et al.Assessment of sleep studies in myotonic dystrophy. Chron Respir Dis, 2007; 4:15–18.
43. Culebras A, Podolsky S, Leopold N A. Absence of sleep-related growth hormone elevations in myotonic dystrophy. Neurology, 1977; 27:165–67.
44. Johansson A, Carlstrom K, Ahren B, et al.Abnormal cytokine and adrenocortical hormone regulation in myotonic dystrophy. J Clin Endocrinol Metab, 2000; 85:3169–76.
45. Timchenko L T. Myotonic dystrophy: the role of RNA CUG triplet repeats. Am J Hum Genet, 1999; 64:360–64.
46. Jiang H, Mankodi A, Swanson MS, et al.Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet, 2004; 13:3079–88.
47. Johansson A, Henriksson A, Olofsson B O, et al.Adrenal steroid dysregulation in dystrophia myotonica. J Intern Med, 1999; 245:345–51.
48. Ashizawa T. Myotonic dystrophy as a brain disorder. Arch Neurol, 1998; 55:291–93.
49. Culebras A, Feldman R G, Merk F B. Cytoplasmic inclusion bodies within neurons of the thalamus in myotonic dystrophy. A light and electron microscope study. J Neurol Sci, 1973; 19:319–29.
50. Ono S, Kurisaki H, Sakuma A, et al.Myotonic dystrophy with alveolar hypoventilation and hypersomnia: a clinicopathological study. J Neurol Sci, 1995; 128:225–31.
51. Ono S, Takahashi K, Jinnai K, et al.Loss of catecholaminergic neurons in the medullary reticular formation in myotonic dystrophy. Neurology, 1998; 51:1121–24.
52. Dauvilliers Y, Baumann C R, Carlander B, et al.CSF hypocretin-1 levels in narcolepsy, Kleine–Levin syndrome, and other hypersomnias and neurological conditions. J Neurol Neurosurg Psychiatry, 2003; 74:1667–73.
53. Coccagna G, Mantovani M, Parchi C, et al.Alveolar hypoventilation and hypersomnia in myotonic dystrophy. J Neurol Neurosurg Psychiatry, 1975; 38:977–84.
54. Nugent A M, Smith I E, Shneerson JM. Domiciliary-assisted ventilation in patients with myotonic dystrophy. Chest, 2002; 121:459–64.
55. Beaudry M, Laforte M, Bégin P, et al.Is a 2-night polysomnographic study necessary to diagnose moderate to severe sleep apnea in myotonic dystrophy type 1? Sleep Med, 2006; 7:S121–22.
56. Loube DI, Gay PC, Strohl KP, et al.Indications for positive airway pressure treatment of adult obstructive sleep apnea patients: a consensus statement. Chest1999; 115: 863–6.
57. Morgenthaler T I, Kapur V K, Brown T, et al.Practice parameters for the treatment of narcolepsy and other hypersomnias of central origin. Sleep, 2007; 30:1705–11.
58. Annane D, Moore D H, Barnes P R, et al.Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy. Cochrane Database Syst Rev, 2006; 3:CD003218.
59. Mac Donald J R, Hill J D, Tarnopolsky M A. Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy. Neurology, 2002; 59:1876–80.
60. Talbot K, Stradling J, Crosby J, et al.Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy. Neuromuscul Disord, 2003; 13:357–64.
61. Orlikowski D, Chevret S, Quera-Salva MA, et al.Modafinil for the treatment of hypersomnia associated with myotonic muscular dystrophy in adults: a multicenter, prospective, randomized, double-blind, placebo-controlled, 4-week trial. Clin Ther, 2009; 31:1765–73.
62. Banerjee D, Vitiello M V, Grunstein R R. Pharmacotherapy for excessive daytime sleepiness. Sleep Med Rev, 2004; 8:339–54.