Sleep disorders in myotonic dystrophies.
myotonic dystrophy
sleep apnea
sleepiness
Journal
Muscle & nerve
ISSN: 1097-4598
Titre abrégé: Muscle Nerve
Pays: United States
ID NLM: 7803146
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
22
06
2019
revised:
15
03
2020
accepted:
16
03
2020
pubmed:
27
3
2020
medline:
29
10
2020
entrez:
27
3
2020
Statut:
ppublish
Résumé
Myotonic dystrophies (DM), the most common muscular dystrophies, are known to have significant sleep disturbances. We analyzed the literature on sleep and excessive daytime sleepiness (EDS) in DM over the past 30 years. In this review we provide a brief overview of sleep, sleep disorders, and methods of assessment. We also analyze data regarding major sleep disorders in DM patients, including: sleep-disordered breathing (SDB), with both central and obstructive sleep apneas (CSA,OSA); EDS; sleep-related movement disorders; and poor sleep quality. We review the possible pathogenesis of these disorders and outline management strategies. We also consider possible future avenues for research. The findings highlight the complex set of sleep-related problems, including the primary abnormality of sleep control in myotonic dystrophies. In individual patients the roles of poor sleep hygiene, SDB, primary hypersomnia, and excess fatigue require careful assessment for appropriate management.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
309-320Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
Udd B, Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol. 2012;11:891-905.
Meola G, Cardani R. Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochim Biophys Acta. 1852;2015:594-606.
Theadom A, Rodrigues M, Roxburgh R, et al. Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology. 2014;43:259-268.
Suominen T, Bachinski LL, Auvinen S, et al. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet. 2011;7:776-782.
Thornton CA, Wang E, Carrell EM. Myotonic dystrophy: approach to therapy. Curr Opin Genet Dev. 2017;44:135-140.
Braz SO, Acquaire J, Gourdon G, Gomes-Pereira M. Of mice and men: advances in the understanding of neuromuscular aspects of myotonic dystrophy. Front Neurol. 2018;9:519.
Thomas JD, Oliveira R, Sznajder ŁJ, Swanson MS. Myotonic dystrophy and developmental regulation of RNA processing. Compr Physiol. 2018;8:509-553.
Dauvilliers YA, Laberge L. Myotonic dystrophy type 1, daytime sleepiness and REM sleep dysregulation. Sleep Med Rev. 2012;16:539-545.
Kierkegaard M, Harms-Ringdahl K, Widén Holmqvist L, Tollbäck A. Perceived functioning and disability in adults with myotonic dystrophy type 1: a survey according to the International Classification of Functioning, Disability and Health. J Rehabil Med. 2009;41:512-520.
Heatwole C, Bode R, Johnson N, et al. Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology. 2012;79:348-357.
Pavlova MK, Latreille V. Sleep disorders. Am J Med. 2019;132:292-299.
Chokroverty S. Overview of sleep & sleep disorders. Indian J Med Res. 2010;131:126-140.
American Association of Sleep Medicine. Manual for Scoring of Sleep and Associated Events. Version 2.5. 2019. www.aasm.org.
Sowho M, Amatoury J, Kirkness JP, Patil AP. Sleep and respiratory physiology in adults. Clin Chest Med. 2014;35:469-481.
Newton K, Malik V, Lee-Chiong T. Sleep and breathing. Clin Chest Med. 2014;35:451-456.
Deak MC, Kirsch DB. Sleep-disordered breathing in neurologic conditions. Clin Chest Med. 2014;35:547-556.
Ruehland WR, Rochford PD, O’Donoghue FH, Pierce RJ, Singh P, Thornton AT. The new AASM criteria for scoring hypopneas: impact on the apnea hypopnea index. Sleep. 2009;32:150-157.
Chiner E, Signes-Costa J, Arriero J, Marco J, Fuentes I, Sergado A. Nocturnal oximetry for the diagnosis of the sleep apnea hypopnea syndrome: a method to reduce the number of polysomnographies? Thorax. 1999;54:968-971.
Silber MH. Diagnostic approach and investigation in sleep medicine. Continnum. 2017;23:973-988.
Buysse DJ, Reynolds CF, Monk TH, Berman SR, Kupfer DJ. The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research. Psychiatry Res. 1988;28:193-213.
John MW. A new method for measuring daytime sleepiness: the Epworth Sleepiness Scale. Sleep. 1991;14:540-545.
Hoddes E, Zarcone V, Smythe H, Phillips R, Dement WC. Quantification of sleepiness: a new approach. Psychopathology. 1973;10:431-436.
Arand D, Bonnet M, Hurwitz M, Rosa R, Sangal RB. The clinical use of MSLT and MWT. Sleep. 2005;28:123-144.
Littner MR, Kushida C, Wise M, et al. Practice parameters for clinical use of multiple sleep latency test and maintenance of wakefulness test. Sleep. 2005;28:113-121.
Smith MT, McCrae CS, Cheung J, et al. Use of actigraphy for the evaluation of sleep disorders and circadian rhythm sleep-wake disorders: an American Academy of Sleep Medicine clinical practice guideline. J Sleep Med. 2018;14:1231-1237.
Leygonie-Goldenberg F, Perrier M, Duizabo T, et al. Disturbances of wakefulness, sleep and respiratory function in Steinert's disease. Rev Neurol. 1977;133:255-270.
Guilleminault C, Cummiskey J, Motta J, Lynne-Davies P. Respiratory and hemodynamic study during wakefulness and sleep in myotonic dystrophy. Sleep. 1978;1:19-31.
Cirignotta F, Mondini S, Zucconi M, et al. Sleep-related breathing impairment in myotonic dystrophy. J Neurol. 1987;235:80-85.
van der Meché FG, Bogaard JM, van der Sluys JC, Schimsheimer RJ, Ververs CC, Busch HF. Daytime sleep in myotonic dystrophy is not caused by sleep apnoea. J Neurol Neurosurg Psychiatry. 1994;57:62-68.
Finnimore AJ, Jackson RV, Motor A, Lynch E. Sleep hypoxia in myotonic dystrophy and its correation with awake respiratory function. Eur Respir J. 1995;8:230-234.
Park YD, Radtke RA. Hypersomnolence in myotonic dystrophy: demonstration of sleep onset REM sleep. J Neurol Neurosurg Psychiatry. 1995;58:512-513.
Ciafaloni E, Mignot E, Sansone V, et al. The hypocretin neurotransmission system in myotonic dystrophy type 1. Neurology. 2008;70:226.
Kumar SP, Sword D, Pett RKH, Banham SW, Patel KR. Assessment of sleep studies in myotonic dystrophy. Chronic Respir Dis. 2007;4:15-18.
Laberge L, Begin P, Dauvilliers Y, et al. A polysomnographic study of daytime sleepiness in myotonic dystrophy type 1. J Neurol Neurosurg Psychiatry. 2009;80:642-646.
Kiyan E, Okumus G, Cuhadaroglu C, Deymeer F. Sleep apnea in adult myotonic dystrophy patients who have no excessive daytime sleepiness. Sleep Breath. 2010;14:19-24.
Yu H, Laberge L, Jaussent I, et al. Daytime sleepiness and REM sleep characteristics in myotonic dystrophy: a case-control study. Sleep. 2011;34:165-170.
Romigi A, Izzi F, Pisani V, et al. Sleep disorders in adult-onset myotonic dystrophy type 1: a controlled polysomnographic study. Eur J Neurol. 2011;18:1139-1145.
Pincherle A, Patruno V, Raimondi P, et al. Sleep breathing disorders in 40 Italian patients with myotonic dystrophy type 1. Neuromuscul Disord. 2012;22:219-224.
Montiero R, Bento J, Goncalves MR, Pinto T, Winck JC. Genetics correlates with lung function and nocturnal ventilation in myotonic dystrophy. Sleep Breath. 2013;17:1087-1092.
Bianchi ML, Losurdo A, Di Blasi C, et al. Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. Sleep Breath. 2014;18:579-589.
West SD, Lochmüller H, Hughes J, et al. Sleepiness and sleep-related breathing disorders in myotonic dystrophy and responses to treatment: a prospective cohort study. J Neuromuscul Dis. 2016;3:529-537.
Spiesshoefer J, Runte M, Heidbreder A, Dreher M. Young 3032P, Brix T3 sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I. Neuromuscul Disord. 2019;29:302-309.
Poussel M, Kaminsky P, Renaus P, Laroppe J, Pruna L, Chenuel B. Supine changes in lung function correlate with chronic respiratory failure in myotonic dystrophy. Respir Physiol Neurobiol. 2014;193:43-51.
Lam EM, Shepard PW, St Louis EK, et al. Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. Neurology. 2013;81:157-164.
Bhat S, Sander HW, Grewal RP, Chokroverty S. Sleep disordered breathing and other sleep dysfunction in myotonic dystrophy type 2. Sleep Med. 2012;13:1207-1208.
Shepard P, Lam EM, St Louis EK, Dominik J. Sleep disturbances in myotonic dystrophy type 2. Eur Neurol. 2012;68:377-380.
Romigi A, Albanese M, Placidi F, et al. Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires. Eur J Neurol. 2014;21:929-934.
Leonardis L, Blagus R, Dolenc GL. Sleep and breathing disorders in myotonic dystrophy type 2. Acta Neurol Scand. 2015;132:42-48.
Banach M, Antczak J, Rola R. Association of peripheral neuropathy with sleep-related breathing disorders in myotonic dystrophies. Neuropsychiatry Dis Treat. 2017;13:133-140.
Romigi A, Albanese M, Liguori C, Placidi F, Marciani MG, Massa R. Sleep-wake cycle and daytime sleepiness in myotonic dystrophies. J Neurodegener Dis. 2013;2013:69202.
Rubinsztein JS, Rubinsztein SC, Goodburn S, Holland AJ. Apathy and hypersomnia are common features of myotonic dystrophy. J Neurol Neurosurg Psychiatry. 1998;64:510-515.
Laberge L, Bégin P, Montplaisir J, Mathieu J. Sleep complaints in patients with myotonic dystrophy. J Sleep Res. 2004;13:95-100.
Laberge C, Gagnon S, Mathieu J. Fatigue and daytime sleepiness rating scales in myotonic dystrophy: a study of reliability. J Neurol Neurosurg Psychiatry. 2005;76:1403-1405.
Hermans MC, Merkies IS, Laberge L, Blom EW, Tennant A, Faber CG. Fatigue and daytime sleepiness scale in myotonic dystrophy type 1. Muscle Nerve. 2013;47:89-95.
Phemister JC, Small JM. Hypersomnia in dystrophia myotonica. J Neurol Neurosurg Psychiatry. 1961;24:173-175.
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.
van Hilten JJ, Kerkhof GA, van Dijk JG, Dunnewold R, Wintzen AR. Disruption of sleep-wake cycle rhythmicity and daytime sleepiness in myotonic dystrophy. J Neurol Sci. 1993;114:68-75.
Giubilei F, Antonini G, Bastianello S et al. Excessive daytime sleepiness in mmyotonic dystrophy. J Neurol Sci. 1999;164:60-63.
Gibbs JW 3rd, Ciafaloni E, Radke RA. Excessive daytime sleepiness in myotonic dystrophy. Sleep. 2002;25:662-665.
Martinez-Rodriguez JE, Lin L, Iranzo A et al. Decreased hypocretin-1 (Orexin-A) levels in the cerebrospinal flid of patients with myotonic dystrophy and excessive sleepiness. Sleep. 2003;26:287-290.
Manni R, Zucca C, Martineeli M, Ottolini A, Lanzi G, Tartara A. Hypersomnia in dystrophia myotonica: a neurophysiological and immunogenetic study. Acta Neurol Scand. 1991;84:498-502.
Phillips MF, Steer HM, Soldan JR, Wiles CM, Harper PS. Daytime somnolence in myotonic dystrophy. J Neurol. 1999;246:275-282.
Quera Salva MA, Blumen M, Jacquette A, et al. Sleep disorders in childhood-onset myotonic dystrophy type 1. Neuromuscul Disord. 2006;16:564-567.
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.
Bonanni E, Carnicelli L, Crapanzano D, et al. Disruption of sleep-wake continuum in myotonic dystrophy type 1: beyond conventional sleep staging. Neuromuscul Disord. 2018;28:414-421.
Omori Y, Kanbayashi T, Imanishi A, et al. Orexin/hypocretin levels in the cerebrospinal fluid and characteristics of patients with myotonic dystrophy type 1 with excessive daytime sleepiness. Neuropsychiatry Dis Treat. 2018;14:451-457.
Chokroverty S, Bhat S, Rosen D, Farheen A. REM behavior disorder in myotonic dystrophy type 2. Neurology. 2012;78:2004.
Filho LHP, Gomes ACD, Gonçalves B, Tufik S, Coelho FM. Myotonic dystrophy type 1―report of non-24-h sleep-wake disorder with excessive daytime sleepiness. Chronobiol Int. 2018;35:1326-1328.
Culebras A, Podolsky S, Leopold NA. Absence of sleep-related growth hormone elevations in myotonic dystrophy. Neurology. 1977;27:165-167.
Ferrari E, Nappi G, Vailati A, Martignoni E, Bossolo PA, Polleri A. Circadian periodicity of plasma prolactin in some neurological diseases. Int J Chronobiol. 1979;6:231-242.
Barreca T, Muratorio A, Sannia A, Murri L, Rossi B, Rolandi E. Evaluation of twenty-four-hour secretory patterns of growth hormone and insulin in patients with myotonic dystrophy. J Clin Endocrinol Metab. 1980;51:1089-1092.
Pizzi A, Fusi S, Forti G, Marconi G. Study of endocrine function in myotonic dystrophy. Ital J Neurol Sci. 1985;6:457-467.
Johansson A, Carlström K, Ahrén B, et al. Abnormal cytokine and adrenocortical hormone regulation in myotonic dystrophy. J Clin Endocrinol Metab. 2000;85:3169-3176.
Culebras A, Feldman RG, Merk FB. Cytoplasmic inclusion bodies within neurons of the thalamus in myotonic dystrophy. A light and electron microscope study. J Neurol Sci. 1973;19:319-329.
Ono S, Kanda F, Takahashi K, et al. Neuronal cell loss in the dorsal raphe nucleus and the superior central nucleus in myotonic dystrophy: a clinicopathological correlation. Acta Neuropathol. 1995;89:122-125.
Ono S, Takahashi K, Jinnai K, et al. Loss of serotonin-containing neurons in the raphe of patients with myotonic dystrophy: a quantitative immunohistochemical study and relation to hypersomnia. Neurology. 1998;50:535-538.
Parrino L, Grassi A, Milioli G. Cyclic alternating pattern in polysomnography: what is it and what does it mean? Curr Opin Pulm Med. 2014;20:533-541.
Cheung J, Ruoff C, Moore H, et al. Increased EEG theta spectral power in sleep in myotonic dystrophy type 1. J Clin Sleep Med. 2018;14:229-235.
van der Kooi AW, Leijten FS, van der Wekken RJ, Slooter AJ. What are the opportunities for EEG-based monitoring of delirium in the ICU? J Neuropsychiatry Clin Neurosci. 2012;24:472-427.
Wozniak JR, Mueller BA, Lim KO, Hemmy LS, Day JW. Tractography reveals diffuse white matter abnormalities in myotonic dystrophy type 1. J Neurol Sci. 2014;341:73-78.
Schneider-Gold C, Bellenberg B, Prehn C, et al. Cortical and subcortical grey and white matter atrophy in myotonic dystrophies type 1 and 2 is associated with cognitive impairment, depression and daytime sleepiness. PLoS One. 2015;10:e0130352.
Krogias C, Bellenberg B, Prehn C, et al. Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography. J Neurol. 2015;262:365-374.
Scammell TE, Arrigoni E, Lipton JO. Neural circuitry of wakefulness and sleep. Neuron. 2017;93:747-765.
Saper CB, Fuller PM. Wake-sleep circuitry: an overview. Curr Opin Neurobiol. 2017;44:186-192.
Hernández-Hernández O, Guiraud-Dogan C, Sicot G, et al. Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour. Brain. 2013;136:957-970.
Goodwin M, Mohan A, Batra R, et al. MBNL sequestration by toxic RNAs and RNA misprocessing in the myotonic dystrophy brain. Cell Rep. 2015;12:1159-1168.
Sahni AS, Wolfe L. Respiratory care in neuromuscular diseases. Respir Care. 2018;63:601-608.
Okkersen K, Jiminez-Moreno C, Wenninger S, et al. Cognitive behavioral therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicenter, single-blind, randomized trial. Lancet Neurol. 2018;17:671-680.
Damian MS, Gerlach A, Schmidt F, et al. Modafinil for excessive daytime sleepiness in myotonic dystrophy. Neurology. 2001;56:794-796.
MacDonald JR, Hill JD, Tarnopolsky MA. Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy. Neurology. 2002;59:1876-1880.
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.
Wintzen AR, Lammers GJ, van Dijk JG. Does modafinil enhance activity of patients with myotonic dystrophy? A double-blind placebo-controlled crossover study. J Neurol. 2007;254:26-28.
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;31:1765-1773.
Puymirat J, Bouchard JP, Mathieu J. Efficacy and tolerability of a 20-mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1: a 2-center randomized, double blind, placebo-controlled, 3-week crossover trial. Clin Ther. 2012;34:1103-1111.
Davies M, Wilton L, Shakir S. Safety profile of modafinil across a range of prescribing indications, including off-label use in a primary care setting in England. Drug Saf. 2013;36:237-246.