Myotonic dystrophy type 1, daytime sleepiness and REM sleep dysregulation

Sleep Medicine Reviews

Volumn 16, Issue 6, 2012, Pages 539-545

  Dauvilliers, Yves A ^a   Laberge, Luc ^b  

^a GUI DE CHAULIAC HOSPITAL   (France)

^b UNIVERSITÉ DU QUÉBEC À CHICOUTIMI   (Canada)

Author keywords

Apnea; Daytime sleepiness; Fatigue; Hypocretin; Myotonic dystrophy 1; Neuromuscular disease; REM sleep dysregulation

Indexed keywords

INTERLEUKIN 6; METHYLPHENIDATE; MODAFINIL; MYOTONIC DYSTROPHY PROTEIN KINASE; TUMOR NECROSIS FACTOR ALPHA;

ARTIFICIAL VENTILATION; BODY MASS; CENTRAL SLEEP APNEA SYNDROME; CLINICAL EVALUATION; COCHRANE LIBRARY; CYTOKINE RELEASE; DAYTIME SOMNOLENCE; EPWORTH SLEEPINESS SCALE; FATIGUE; HUMAN; HYPERCAPNIA; HYPERSOMNIA; HYPOXEMIA; IDIOPATHIC DISEASE; INTERMITTENT POSITIVE PRESSURE VENTILATION; KRUPPS FATIGUE SEVERITY SCALE; LATENT PERIOD; MULTICENTER STUDY (TOPIC); MULTIPLE SLEEP LATENCY TEST; MUSCLE ATONIA; MYOTONIC DYSTROPHY; NARCOLEPSY; NIGHT SLEEP; NUCLEAR MAGNETIC RESONANCE IMAGING; PARASOMNIA; PERIODIC LIMB MOVEMENT DISORDER; PHENOTYPE; POLYSOMNOGRAPHY; POSITIVE END EXPIRATORY PRESSURE; PSYCHOLOGICAL RATING SCALE; QUALITY OF LIFE; RANDOMIZED CONTROLLED TRIAL (TOPIC); RESTLESS LEGS SYNDROME; REVIEW; SHORT FORM 36; SLEEP; SLEEP DISORDERED BREATHING; SOCIAL INTERACTION; THALAMUS DORSOMEDIAL NUCLEUS; WAKEFULNESS;

DISORDERS OF EXCESSIVE SOMNOLENCE; HUMANS; HYPNOTICS AND SEDATIVES; MYOTONIC DYSTROPHY; NOCTURNAL MYOCLONUS SYNDROME; POLYSOMNOGRAPHY; REM SLEEP PARASOMNIAS; SLEEP APNEA SYNDROMES; WAKEFULNESS;

EID: 84867209177     PISSN: 10870792     EISSN: 15322955     Source Type: Journal    
DOI: 10.1016/j.smrv.2012.01.001     Document Type: Review

References (67)

1. Harper P.S. Myotonic dystrophy 2001, W.B. Saunders, Philadelphia. 3rd ed.
2. Mathieu J., De Braekeleer M., Prevost C. Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada). Neurology 1990, 40:839-842.
3. Harley H.G., Brook J.D., Rundle S.A., Crow S., Reardon W., Buckler A.J., et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992, 355:545-546.
4. Mathieu J., Allard P., Potvin L., Prevost C., Bégin P. A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 1999, 52:1658-1662.
5. Hilton-Jones D. Myotonic dystrophy-forgotten aspects of an often neglected condition. Curr Opin Neurol 1997, 10:399-401.
6. Timchenko L.T. Myotonic dystrophy: the role of RNA CUG triplet repeats. Am J Hum Genet 1999, 64:360-364.
7. Quera Salva M.A., Blumen M., Jacquette A., Durand M.C., Andre S., De Villiers M., et al. Sleep disorders in childhood-onset myotonic dystrophy type 1. Neuromuscul Disord 2006, 16:564-570.
8. Leygonie-Goldenberg F., Perrier M., Duizabo P., Bouchareine A., Harf A., Barbizet J., et al. Disturbances of wakefulness, sleep and respiratory function in Steinert's disease. Rev Neurol 1977, 133:255-270.
9. Park J.D., Radtke R.A. Hypersomnolence in myotonic dystrophy: demonstration of sleep onset REM sleep. J Neurol Neurosurg Psychiatry 1995, 58:512-513.
10. Phemister J.C., Small J.M. Hypersomnia in dystrophia myotonica. J Neurol Neurosurg Psychiatry 1961, 24:173-175.
11. Rubinsztein J.S., Rubinsztein D.C., Goodburn S., Holland A.J. Apathy and hypersomnia are common features of myotonic dystrophy. J Neurol Neurosurg Psychiatry 1998, 64:510-515.
12. van der Meché F.G., Bogaard J.M., van der Sluys H.C., Schimsheimer R.J., Ververs C.C., Busch H.F. Daytime sleep in myotonic dystrophy is not caused by sleep apnoea. J Neurol Neurosurg Psychiat 1994, 57:626-628.
13. Laberge L., Bégin P., Dauvilliers Y., Beaudry M., Laforte M., Jean S., et al. A polysomnographic study of daytime sleepiness in myotonic dystrophy type 1. J Neurol Neurosurg Psychiatry 2009, 80:642-646.
14. Laberge L., Dauvilliers Y., Bégin P., Richer L., Jean S., Mathieu J. Fatigue and daytime sleepiness in patients with myotonic dystrophy type 1: to lump or split?. Neuromuscul Disord 2009, 19:397-402.
15. Laberge L., Dauvilliers Y. Myotonic dystrophy and sleepiness. Sleepiness: causes, consequences, disorders and treatment 2011, 316-328. Cambridge University Press, Cambridge, UK. M. Thorpy, M. Billiard (Eds.).
16. Yu H., Laberge L., Jaussent I., Bayard S., Scholtz S., Raoul M., et al. Daytime sleepiness and REM sleep characteristics in myotonic dystrophy: a case-control study. Sleep 2011, 34:165-170.
17. Laberge L., Gagnon C., Jean S., Mathieu J. Fatigue and daytime sleepiness rating scales in myotonic dystrophy: a study of reliability. J Neurol Neurosurg Psychiatry 2005, 76:1403-1405.
18. Laberge L., Bégin P., Montplaisir J., Mathieu J. Sleep complaints in patients with myotonic dystrophy. J Sleep Res 2004, 13:95-100.
19. Phillips M.F., Steer H.M., Soldan J.R., Wiles C.M., Harper P.S. Daytime somnolence in myotonic dystrophy. J Neurol 1999, 246:275-282.
20. Laberge L., Veillette S., Mathieu J., Auclair J., Perron M. The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy. Clin Genet 2007, 71:59-66.
21. Kalkman J.S., Schillings M.L., van der Werf S.P., Padberg G.W., Zwarts M.J., van Engelen B.G., et al. Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. J Neurol Neurosurg Psychiatry 2005, 76:1406-1409.
22. Thomasen E. Myotonia 1948, Aarhuus Universitetsforlaget, Denmark.
23. Hilton-Jones D., Damian M.S., Meola G. Somnolence and its management. Myotonic dystrophy: present management, future therapy 2004, 135-149. Oxford University Press, Oxford. P. Harper, B. van Engelen, B. Eymard, D. Wilcox (Eds.).
24. Rohrer K. Ueber myotonia atrophica (dystrophia myotonica). Dtsch Z Nervenheilkd 1916, 55:242-304.
25. Kilburn K.H., Eagen J.T., Heyman A. Cardiopulmonary insufficiency associated with myotonic dystrophy. Am J Med 1959, 26:929-935.
26. Chang L., Anderson T., Migneco O.A., Boone K., Mehringer C.M., Villanueva-Meyer J., et al. Cerebral abnormalities in myotonic dystrophy. Cerebral blood flow, magnetic resonance imaging, and neuropsychological tests. Arch Neurol 1993, 50:917-923.
27. Turnpenny P., Clark C., Kelly K. Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Medical Genetics 1994, 31:300-305.
28. Perini G.I., Menegazzo E., Ermani M., Zara M., Gemma A., Ferruzza E., et al. Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients. Biol Psychiatry 1999, 46:425-431.
29. Sistiaga A., Urreta I., Jodar M., Cobo A.M., Emparanza J., Otaegui D., et al. Cognitive /personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1. Psychol Medicine 2010, 40:487-495.
30. 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.
31. van Hilten J.J., Kerkhof G.A., van Dijk J.G., Dunnewold R., Wintzen A.R. Disruption of sleep-wake rhythmicity and daytime sleepiness in myotonic dystrophy. J Neurol Sci 1993, 114:68-75.
32. Manni R., Zucca C., Martinetti M., Ottolini A., Lanzi G., Tartara A. Hypersomnia in dystrophia myotonica: a neurophysiological and immunogenetic study. Acta Neurol Scand 1991, 84:498-502.
33. Gilmartin J.J., Cooper B.G., Griffiths C.J., Walls T.J., Veale D., Stone T.N., et al. Breathing during sleep in patients with myotonic dystrophy and non-myotonic respiratory muscle weakness. Q J Med 1991, 78:21-31.
34. 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, 65:225-232.
35. Giubilei F., Antonini G., Bastianello S., Morino S., Paolillo A., Fiorelli M., et al. Excessive daytime sleepiness in myotonic dystrophy. J Neurol Sci 1999, 164:60-63.
36. Ciafaloni E., Mignot E., Sansone V., Hilbert J.E., Lin L., Lin X., et al. The hypocretin neurotransmission system in myotonic dystrophy type 1. Neurology 2008, 70:226-230.
37. Broughton R., Stuss D., Kates M., Roberts J., Dunham W. Neuropsychological deficits and sleep in myotonic dystrophy. Can J Neurol Sci 1990, 17:410-415.
38. Cirignotta F., Mondini S., Zucconi M., Barrot-Cortes E., Sturani C., Schiavina M., et al. Sleep-related breathing impairment in myotonic dystrophy. J Neurol 1987, 235:80-85.
39. Gibbs J.W., Ciafaloni E., Radtke R.A. Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy. Sleep 2002, 25:672-675.
40. Martínez-Rodríguez J.E., Lin L., Iranzo A., Genis D., Martí M.J., Santamaria J., et al. Decreased hypocretin-1 (orexin-A) levels in the cerebrospinal fluid of patients with myotonic dystrophy and excessive daytime sleepiness. Sleep 2003, 26:287-290.
41. Montplaisir J., Gagnon J.F., Fantini M.L., Postuma R.B., Dauvilliers Y., Desautels A., et al. Polysomnographic diagnosis of idiopathic REM sleep behavior disorder. Mov Dis 2010, 25:2044-2051.
42. Dauvilliers Y., Rompré S., Gagnon J.F., Vendette M., Petit D., Montplaisir J. REM sleep characteristics in narcolepsy and REM sleep behavior disorder. Sleep 2007, 30:844-849.
43. Pennestri M.H., Montplaisir J., Colombo R., Lavigne G., Lanfranchi P.A. Nocturnal blood pressure changes in patients with restless legs syndrome. Neurology 2007, 68:1213-1218.
44. Walters A.S., Rye D.B. Review of the relationship of restless legs syndrome and periodic limb movements in sleep to hypertension, heart disease, and stroke. Sleep 2009, 32:589-597.
45. Walters A.S., Rye D.B. Evidence continues to mount on the relationship of restless legs syndrome/periodic limb movements in sleep to hypertension, cardiovascular disease, and stroke. Sleep 2010, 33:287.
46. Bégin P., Mathieu J., Almirall J., Grassino A. Relationship between chronic hypercapnia and inspiratory-muscle weakness in myotonic dystrophy. Am J Respir Crit Care Med 1997, 156:133-139.
47. Finnimore A.J., Jackson R.V., Morton A., Lynch E. Sleep hypoxia in myotonic dystrophy and its correlation with awake respiratory function. Thorax 1994, 49:66-70.
48. Ono S., Kanda F., Takahashi K., Fukuoka Y., Jinnai K., Kurisaki H., et al. Neuronal loss in the medullary reticular formation in myotonic dystrophy: a clinicopathological study. Neurology 1996, 46:228-231.
49. Coccagna G., Martinelli P., Lugaresi E. Sleep and alveolar hypoventilation in myotonic dystrophy. Acta Neurol Belg 1982, 82:185-194.
50. Kiyan E., Okumus G., Cuhadaroglu C., Deymeer F. Sleep apnea in adult myotonic dystrophy patients who have no excessive daytime sleepiness. Sleep Breath 2010, 14(1):19-24.
51. Culebras A., Podolsky S., Leopold N.A. Absence of sleep-related growth hormone elevations in myotonic dystrophy. Neurology 1977, 27:165-167.
52. Johansson A., Henriksson A., Olofsson B.O., Olsson T. Adrenal steroid dysregulation in dystrophia myotonica. J Intern Med 1999, 245:345-351.
53. Johansson A., Carlström K., Ahrén B., Cederquist K., Krylborg E., Forsberg H., et al. Abnormal cytokine and adrenocortical hormone regulation in myotonic dystrophy. J Clin Endocrinol Metab 2000, 85:3169-3176.
54. Ashizawa T. Myotonic dystrophy as a brain disorder. Arch Neurol 1998, 55:291-293.
55. 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, 19:319-329.
56. Ono S., Kurisaki H., Sakuma A., Nagao K. Myotonic dystrophy with alveolar hypoventilation and hypersomnia: a clinicopathological study. J Neurol Sci 1995, 128:225-231.
57. Ono S., Takahashi K., Jinnai K., Kanda F., Fukuoka Y., Kurisaki H., et al. Loss of catecholaminergic neurons in the medullary reticular formation in myotonic dystrophy. Neurology 1998, 51:1121-1124.
58. Dauvilliers Y., Baumann C.R., Carlander B., Bischof M., Blatter T., Lecendreux M., et al. CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions. J Neurol Neurosurg Psychiatry 2003, 74:1667-1673.
59. Jiang H., Mankodi A., Swanson M.S., Moxley R.T., Thornton C.A. 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, 13:3079-3088.
60. Reimer M.A., Flemons W.W. Quality of life in sleep disorders. Sleep Med Rev 2003, 7:335-349.
61. Kumar S.P., Sword D., Petty R.K., Banham S.W., Patel K.R. Assessment of sleep studies in myotonic dystrophy. Chron Respir Dis 2007, 4:15-18.
62. Coccagna G., Mantovani M., Parchi C., Mironi F., Lugaresi E. Alveolar hypoventilation and hypersomnia in myotonic dystrophy. J Neurol Neurosurg Psychiatry 1975, 38:977-984.
63. Morgenthaler T.I., Kapur V.K., Brown T., Swick T.J., Alessi C., Aurora R.N., et al. Practice parameters for the treatment of narcolepsy and other hypersomnias of central origin. Sleep 2007, 30:1705-1711.
64. Annane D., Moore D.H., Barnes P.R., Miller R.G. Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy. Cochrane Database Syst Rev 2006, 3. CD003218.
65. MacDonald J.R., Hill J.D., Tarnopolsky M.A. Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy. Neurology 2002, 59:1876-1880.
66. Talbot K., Stradling J., Crosby J., Hilton-Jones D. Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy. Neuromuscul Disord 2003, 13:357-364.
67. Orlikowski D., Chevret S., Quera-Salva M.A., Laforêt P., Lofaso F., Verschueren A., 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, 31:1765-1773.