Sleep Disturbances in Patients with Disorders of the Nerve and Muscle Diseases

  • Jorge L. Morales-Estrella
  • Loutfi S. AboussouanEmail author
Sleep and Neurological Conditions (A Avidan, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Sleep and Neurological Conditions


Purpose of Review

Recognize sleep disorders associated with neuromuscular diseases.

Recent Findings

Neuromuscular diseases can be associated with various sleep disorders. Diaphragmatic weakness, bulbar dysfunction, pharyngeal neuropathy, and central neurodegeneration cause sleep-disordered breathing. Spinal cord hyperexcitability, loss of inhibitory descending pathways, and neuropathy promote restless legs syndrome. Reduced cerebrospinal fluid (CSF) hypocretin, central dysfunction of sleep regulation, and degeneration of GABAergic intracortical circuits may contribute to central hypersomnia. Dysfunction of the nigrostriatal dopaminergic system, associated with neurodegenerative diseases and certain neuromuscular disorders, may be a common pathophysiologic mechanism responsible for the loss of rapid eye movement (REM) sleep muscle atonia and REM sleep behavior disorder (RBD).


Different neuromuscular disorder may be more susceptible to specific sleep disturbances. A low threshold needs to be maintained for the diagnosis and treatment of sleep disorders in neuromuscular diseases, due to their high prevalence, lack of symptom specificity, and presence even in minimally symptomatic patients. However, loss of REM atonia may be protective against sleep-disordered breathing. There are reasonable pathophysiologic mechanisms such as respiratory muscle weakness, upper airway obstruction, and central dysfunction that explain the link between sleep disorders and neuromuscular diseases


Neuromuscular diseases Sleep-disordered breathing Restless legs syndrome Periodic limb movements Disorders of excessive somnolence 


Funding Information

Loutfi S. Aboussouan has received royalties from UpToDate/Wolters Kluwer for authorship of chapters unrelated to the topic discussed here.

Compliance with Ethical Standards

Conflict of Interest

Jorge L. Morales-Estrella declares no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

  1. 1.
    Culebras A. Sleep disorders and neuromuscular disease. Semin Neurol. 2005;25(1):33–8. Scholar
  2. 2.
    Aboussouan LS. Sleep-disordered breathing in neuromuscular disease. Am J Respir Crit Care Med. 2015;191(9):979–89. Scholar
  3. 3.
    Smith PE, Edwards RH, Calverley PM. Mechanisms of sleep-disordered breathing in chronic neuromuscular disease: implications for management. Q J Med. 1991;81(296):961–73.Google Scholar
  4. 4.
    Gould GA, Gugger M, Molloy J, Tsara V, Shapiro CM, Douglas NJ. Breathing pattern and eye movement density during REM sleep in humans. Am Rev Respir Dis. 1988;138(4):874–7. Scholar
  5. 5.
    Weinberg J, Klefbeck B, Borg J, Svanborg E. Polysomnography in chronic neuromuscular disease. Respiration. 2003;70(4):349–54. Scholar
  6. 6.
    White JE, Drinnan MJ, Smithson AJ, Griffiths CJ, Gibson GJ. Respiratory muscle activity and oxygenation during sleep in patients with muscle weakness. Eur Respir J. 1995;8(5):807–14.Google Scholar
  7. 7.
    Ragette R, Mellies U, Schwake C, Voit T, Teschler H. Patterns and predictors of sleep disordered breathing in primary myopathies. Thorax. 2002;57(8):724–8.Google Scholar
  8. 8.
    Ferguson KA, Strong MJ, Ahmad D, George CF. Sleep-disordered breathing in amyotrophic lateral sclerosis. Chest. 1996;110(3):664–9.Google Scholar
  9. 9.
    • Aboussouan LS, Mireles-Cabodevila E. Sleep-disordered breathing in neuromuscular disease: diagnostic and therapeutic challenges. Chest. 2017;152(4):880–92. Review that covers diagnostic and therapeutic considerations for the management of sleep-disordered breathing in neuromuscular disorders.Google Scholar
  10. 10.
    Polat M, Sakinci O, Ersoy B, Sezer RG, Yilmaz H. Assessment of sleep-related breathing disorders in patients with duchenne muscular dystrophy. J Clin Med Res. 2012;4(5):332–7. Scholar
  11. 11.
    Suresh S, Wales P, Dakin C, Harris MA, Cooper DG. Sleep-related breathing disorder in Duchenne muscular dystrophy: disease spectrum in the paediatric population. J Paediatr Child Health. 2005;41(9–10):500–3. Scholar
  12. 12.
    Nozoe KT, Moreira GA, Tolino JR, Pradella-Hallinan M, Tufik S, Andersen ML. The sleep characteristics in symptomatic patients with Duchenne muscular dystrophy. Sleep Breath. 2015;19(3):1051–6. Scholar
  13. 13.
    • Sawnani H, Thampratankul L, Szczesniak RD, Fenchel MC, Simakajornboon N. Sleep disordered breathing in young boys with Duchenne muscular dystrophy. J Pediatr. 2015;166(3):640–5 e1. A retrospective study of sleep-disordered breathing in 110 boys with Duchenne-type muscular dystrophy. The study examines the relationship of spirometry values, body mass index, and indices of sleep-disordered breathing in this population.Google Scholar
  14. 14.
    Canapari CA, Barrowman N, Hoey L, Walker SW, Townsend E, Tseng BS, et al. Truncal fat distribution correlates with decreased vital capacity in Duchenne muscular dystrophy. Pediatr Pulmonol. 2015;50(1):63–70. Scholar
  15. 15.
    Weber DR, Hadjiyannakis S, McMillan HJ, Noritz G, Ward LM. Obesity and endocrine management of the patient with Duchenne muscular dystrophy. Pediatrics. 2018;142(Suppl 2):S43–52. Scholar
  16. 16.
    Malhotra HS, Juyal R, Malhotra KP, Shukla R. Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene. Ann Indian Acad Neurol. 2011;14(1):47–9. Scholar
  17. 17.
    Renard D, Humbertclaude V, Labauge P. Macroglossia in adult Duchenne muscular dystrophy. Acta Neurol Belg. 2010;110(3):288.Google Scholar
  18. 18.
    LoMauro A, D'Angelo MG, Aliverti A. Sleep disordered breathing in Duchenne muscular dystrophy. Curr Neurol Neurosci Rep. 2017;17(5):44. Scholar
  19. 19.
    Khan Y, Heckmatt JZ. Obstructive apnoeas in Duchenne muscular dystrophy. Thorax. 1994;49(2):157–61.Google Scholar
  20. 20.
    Barbe F, Quera-Salva MA, McCann C, Gajdos P, Raphael JC, de Lattre J, et al. Sleep-related respiratory disturbances in patients with Duchenne muscular dystrophy. Eur Respir J. 1994;7(8):1403–8.Google Scholar
  21. 21.
    • Kansagra S, Austin S, DeArmey S, Kishnani PS, Kravitz RM. Polysomnographic findings in infantile Pompe disease. Am J Med Genet A. 2013;161A(12):3196–200. This is the first study to describe polysomnography data in infantile Pompe disease. It shows that obstructive sleep apnea and hypoventialtion were common among this cohort.Google Scholar
  22. 22.
    Jones HN, Muller CW, Lin M, Banugaria SG, Case LE, Li JS, et al. Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia. 2010;25(4):277–83. Scholar
  23. 23.
    van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, et al. Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. J Inherit Metab Dis. 2012;35(3):505–11. Scholar
  24. 24.
    Mellies U, Ragette R, Schwake C, Baethmann M, Voit T, Teschler H. Sleep-disordered breathing and respiratory failure in acid maltase deficiency. Neurology. 2001;57(7):1290–5.Google Scholar
  25. 25.
    Nabatame S, Taniike M, Sakai N, Kato-Nishimura K, Mohri I, Kagitani-Shimono K, et al. Sleep disordered breathing in childhood-onset acid maltase deficiency. Brain and Development. 2009;31(3):234–9. Scholar
  26. 26.
    Pincherle A, Patruno V, Raimondi P, Moretti S, Dominese A, Martinelli-Boneschi F, et al. Sleep breathing disorders in 40 Italian patients with myotonic dystrophy type 1. Neuromuscul Disord. 2012;22(3):219–24. Scholar
  27. 27.
    • Banach M, Antczak J, Rola R. Association of peripheral neuropathy with sleep-related breathing disorders in myotonic dystrophies. Neuropsychiatr Dis Treat. 2017;13:133–40. This prospective study examined the correlation between nerve conduction study parameters and indices of sleep-disordered breathing in myotonic dystrophy. The authors propose a complex interplay between axonal degeneration and respiratory events.Google Scholar
  28. 28.
    • Romigi A, Franco V, Placidi F, Liguori C, Rastelli E, Vitrani G, et al. Comparative sleep disturbances in myotonic dystrophy types 1 and 2. Curr Neurol Neurosci Rep. 2018;18(12):102. A comprehensive review of the current knowledge of sleep disturbances in myotonic dystrophy. The review highlights the differences between DM1 and DM2.Google Scholar
  29. 29.
    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. Scholar
  30. 30.
    Romigi A, Albanese M, Placidi F, Izzi F, Liguori C, Marciani MG, et al. Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires. Eur J Neurol. 2014;21(6):929–34. Scholar
  31. 31.
    Bianchi ML, Losurdo A, Di Blasi C, Santoro M, Masciullo M, Conte G, et al. Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. Sleep Breath. 2014;18(3):579–89. Scholar
  32. 32.
    Laberge L, Begin 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(6):642–6. Scholar
  33. 33.
    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(2):80–5.Google Scholar
  34. 34.
    van der Meche 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(5):626–8.Google Scholar
  35. 35.
    Dziewas R, Waldmann N, Bontert M, Hor H, Muller T, Okegwo A, et al. Increased prevalence of obstructive sleep apnoea in patients with Charcot-Marie-Tooth disease: a case control study. J Neurol Neurosurg Psychiatry. 2008;79(7):829–31. Scholar
  36. 36.
    Dematteis M, Pepin JL, Jeanmart M, Deschaux C, Labarre-Vila A, Levy P. Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study. Lancet. 2001;357(9252):267–72. Scholar
  37. 37.
    Boentert M, Knop K, Schuhmacher C, Gess B, Okegwo A, Young P. Sleep disorders in Charcot-Marie-Tooth disease type 1. J Neurol Neurosurg Psychiatry. 2014;85(3):319–25. Scholar
  38. 38.
    Levy P, Pepin JL, Dematteis M. Pharyngeal neuropathy in obstructive sleep apnea: where are we going? Am J Respir Crit Care Med. 2012;185(3):241–3. Scholar
  39. 39.
    Saboisky JP, Stashuk DW, Hamilton-Wright A, Carusona AL, Campana LM, Trinder J, et al. Neurogenic changes in the upper airway of patients with obstructive sleep apnea. Am J Respir Crit Care Med. 2012;185(3):322–9. Scholar
  40. 40.
    Aboussouan LS, Mireles-Cabodevila E. Sleep in amyotrophic lateral sclerosis. Curr Sleep Med Rep. 2017;3(4):279–89. Scholar
  41. 41.
    Atalaia A, De Carvalho M, Evangelista T, Pinto A. Sleep characteristics of amyotrophic lateral sclerosis in patients with preserved diaphragmatic function. Amyotroph Lateral Scler. 2007;8(2):101–5. Scholar
  42. 42.
    Santos C, Braghiroli A, Mazzini L, Pratesi R, Oliveira LV, Mora G. Sleep-related breathing disorders in amyotrophic lateral sclerosis. Monaldi Arch Chest Dis. 2003;59(2):160–5.Google Scholar
  43. 43.
    Barthlen GM, Lange DJ. Unexpectedly severe sleep and respiratory pathology in patients with amyotrophic lateral sclerosis. Eur J Neurol. 2000;7(3):299–302.Google Scholar
  44. 44.
    Hetta J, Jansson I. Sleep in patients with amyotrophic lateral sclerosis. J Neurol. 1997;244(4 Suppl 1):S7–9.Google Scholar
  45. 45.
    Arnulf I, Similowski T, Salachas F, Garma L, Mehiri S, Attali V, et al. Sleep disorders and diaphragmatic function in patients with amyotrophic lateral sclerosis. Am J Respir Crit Care Med. 2000;161(3 Pt 1):849–56. Scholar
  46. 46.
    Sankari A, Bascom A, Oomman S, Badr MS. Sleep disordered breathing in chronic spinal cord injury. J Clin Sleep Med. 2014;10(1):65–72. Scholar
  47. 47.
    Sankari A, Bascom AT, Badr MS. Upper airway mechanics in chronic spinal cord injury during sleep. J Appl Physiol (1985). 2014;116(11):1390–5. Scholar
  48. 48.
    Rosenbohm A, Schmid B, Buckert D, Rottbauer W, Kassubek J, Ludolph AC, et al. Cardiac findings in amyotrophic lateral sclerosis: a magnetic resonance imaging study. Front Neurol. 2017;8:479. Scholar
  49. 49.
    Choi SJ, Hong YH, Shin JY, Yoon BN, Sohn SY, Park CS, et al. Takotsubo cardiomyopathy in amyotrophic lateral sclerosis. J Neurol Sci. 2017;375:289–93. Scholar
  50. 50.
    Ahmed RM, Newcombe RE, Piper AJ, Lewis SJ, Yee BJ, Kiernan MC, et al. Sleep disorders and respiratory function in amyotrophic lateral sclerosis. Sleep Med Rev. 2016;26:33–42. Scholar
  51. 51.
    Yamauchi R, Imai T, Tsuda E, Hozuki T, Yamamoto D, Shimohama S. Respiratory insufficiency with preserved diaphragmatic function in amyotrophic lateral sclerosis. Intern Med. 2014;53(12):1325–31.Google Scholar
  52. 52.
    Similowski T, Attali V, Bensimon G, Salachas F, Mehiri S, Arnulf I, et al. Diaphragmatic dysfunction and dyspnoea in amyotrophic lateral sclerosis. Eur Respir J. 2000;15(2):332–7.Google Scholar
  53. 53.
    • Howell BN, Newman DS. Dysfunction of central control of breathing in amyotrophic lateral sclerosis. Muscle Nerve. 2017;56(2):197–201. This review covers the evidence for dysfunction of central control of breathing in ALS, including the role of degeneration of the pre-Bötzinger complex.Google Scholar
  54. 54.
    de Carvalho M, Costa J, Pinto S, Pinto A. Percutaneous nocturnal oximetry in amyotrophic lateral sclerosis: periodic desaturation. Amyotroph Lateral Scler. 2009;10(3):154–61. Scholar
  55. 55.
    •• Poussel M, Thil C, Kaminsky P, Mercy M, Gomez E, Chaouat A, et al. Lack of correlation between the ventilatory response to CO2 and lung function impairment in myotonic dystrophy patients: evidence for a dysregulation at central level. Neuromuscul Disord. 2015;25(5):403–8. This prospective study tested the hypothesis that CO 2 sensititivy is independent of lung function impairment in myotonic dystrophy. The lack of correlation suggests a central cause of CO 2 insensitivy and central dysfunction.Google Scholar
  56. 56.
    Sankari A, Bascom AT, Chowdhuri S, Badr MS. Tetraplegia is a risk factor for central sleep apnea. J Appl Physiol (1985). 2014;116(3):345–53. Scholar
  57. 57.
    Verhaert D, Richards K, Rafael-Fortney JA, Raman SV. Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations. Circ Cardiovasc Imaging. 2011;4(1):67–76. Scholar
  58. 58.
    Nigro G, Comi LI, Politano L, Bain RJ. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol. 1990;26(3):271–7.Google Scholar
  59. 59.
    Lemay J, Series F, Senechal M, Maranda B, Maltais F. Unusual respiratory manifestations in two young adults with Duchenne muscular dystrophy. Can Respir J. 2012;19(1):37–40. Scholar
  60. 60.
    Kushida CA, Littner MR, Morgenthaler T, Alessi CA, Bailey D, Coleman J Jr, et al. Practice parameters for the indications for polysomnography and related procedures: an update for 2005. Sleep. 2005;28(4):499–521.Google Scholar
  61. 61.
    Bach JR, Mahajan K. What is “sleep-disordered breathing” for patients with neuromuscular weakness? Arch Phys Med Rehabil. 2007;88(12):1744–5; author reply 5. Scholar
  62. 62.
    Barbe F, Quera-Salva MA, Agusti AG. Apnoea in Duchenne muscular dystrophy. Thorax. 1995;50(10):1123.Google Scholar
  63. 63.
    Quera-Salva MA, Guilleminault C, Chevret S, Troche G, Fromageot C, Crowe McCann C, et al. Breathing disorders during sleep in myasthenia gravis. Ann Neurol. 1992;31(1):86–92. Scholar
  64. 64.
    Fanfulla F, Delmastro M, Berardinelli A, Lupo ND, Nava S. Effects of different ventilator settings on sleep and inspiratory effort in patients with neuromuscular disease. Am J Respir Crit Care Med. 2005;172(5):619–24. Scholar
  65. 65.
    Johnson KG, Johnson DC. Bilevel positive airway pressure worsens central apneas during sleep. Chest. 2005;128(4):2141–50. Scholar
  66. 66.
    Allen RP, Picchietti D, Hening WA, Trenkwalder C, Walters AS, Montplaisi J, et al. Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology. A report from the restless legs syndrome diagnosis and epidemiology workshop at the National Institutes of Health. Sleep Med. 2003;4(2):101–19.Google Scholar
  67. 67.
    Hening WA, Allen RP, Washburn M, Lesage SR, Earley CJ. The four diagnostic criteria for restless legs syndrome are unable to exclude confounding conditions (“mimics”). Sleep Med. 2009;10(9):976–81. Scholar
  68. 68.
    Limousin N, Blasco H, Corcia P, Arnulf I, Praline J. The high frequency of restless legs syndrome in patients with amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011;12(4):303–6. Scholar
  69. 69.
    Lo Coco D, Piccoli F, La Bella V. Restless legs syndrome in patients with amyotrophic lateral sclerosis. Mov Disord. 2010;25(15):2658–61. Scholar
  70. 70.
    Entezari-Taher M, Singleton JR, Jones CR, Meekins G, Petajan JH, Smith AG. Changes in excitability of motor cortical circuitry in primary restless legs syndrome. Neurology. 1999;53(6):1201–5.Google Scholar
  71. 71.
    •• Lo Coco D, Puligheddu M, Mattaliano P, Congiu P, Borghero G, Fantini ML, et al. REM sleep behavior disorder and periodic leg movements during sleep in ALS. Acta Neurol Scand. 2017;135(2):219–24. This study covers sleep architecture, restless leg, periodic limb movement, and REM behavior disorder in ALS subjects compared to a control group matched for age, sex, and body mass index. Google Scholar
  72. 72.
    Gemignani F, Marbini A, Di Giovanni G, Salih S, Terzano MG. Charcot-Marie-Tooth disease type 2 with restless legs syndrome. Neurology. 1999;52(5):1064–6.Google Scholar
  73. 73.
    Hattan E, Chalk C, Postuma RB. Is there a higher risk of restless legs syndrome in peripheral neuropathy? Neurology. 2009;72(11):955–60. Scholar
  74. 74.
    Iannaccone S, Zucconi M, Marchettini P, Ferini-Strambi L, Nemni R, Quattrini A, et al. Evidence of peripheral axonal neuropathy in primary restless legs syndrome. Mov Disord. 1995;10(1):2–9. Scholar
  75. 75.
    • Kumru H, Portell E, Barrio M, Santamaria J. Restless legs syndrome in patients with sequelae of poliomyelitis. Parkinsonism Relat Disord. 2014;20(10):1056–8. This prospective study examined the prevalence and severity of RLS in patients with polyomyelitis. This study showed that RLS is highly prevalent in PM, irrespective of the presence of post-polio syndrome.Google Scholar
  76. 76.
    Marin LF, Carvalho LBC, Prado LBF, Oliveira ASB, Prado GF. Restless legs syndrome is highly prevalent in patients with post-polio syndrome. Sleep Med. 2017;37:147–50. Scholar
  77. 77.
    Romigi A, Pierantozzi M, Placidi F, Evangelista E, Albanese M, Liguori C, et al. Restless legs syndrome and post polio syndrome: a case-control study. Eur J Neurol. 2015;22(3):472–8. Scholar
  78. 78.
    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(2):165–70.Google Scholar
  79. 79.
    Akamine RT, Grossklauss LF, Nozoe KT, Moreira GA, Bulle Oliveira AS, Troccoli Chieia MA, et al. Restless leg syndrome exacerbated by amytriptiline in a patient with Duchenne muscular dystrophy. Sleep Sci. 2014;7(3):178–80. Scholar
  80. 80.
    Moszczynski AJ, Tandon A, Coelho FM, Zinman L, Murray B. Mortality associated with periodic limb movements during sleep in amyotrophic lateral sclerosis patients. Einstein (Sao Paulo). 2012;10(4):428–32.Google Scholar
  81. 81.
    Polydefkis M, Allen RP, Hauer P, Earley CJ, Griffin JW, McArthur JC. Subclinical sensory neuropathy in late-onset restless legs syndrome. Neurology. 2000;55(8):1115–21.Google Scholar
  82. 82.
    Kalkman JS, Schillings ML, van der Werf SP, Padberg GW, Zwarts MJ, van Engelen BG, et al. Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. J Neurol Neurosurg Psychiatry. 2005;76(10):1406–9. Scholar
  83. 83.
    Nicholson K, Murphy A, McDonnell E, Shapiro J, Simpson E, Glass J, et al. Improving symptom management for people with amyotrophic lateral sclerosis. Muscle Nerve. 2018;57(1):20–4. Scholar
  84. 84.
    Gibbons CJ, Thornton EW, Young CA. The patient experience of fatigue in motor neurone disease. Front Psychol. 2013;4(788):788. Scholar
  85. 85.
    Rubinsztein JS, Rubinsztein DC, Goodburn S, Holland AJ. Apathy and hypersomnia are common features of myotonic dystrophy. J Neurol Neurosurg Psychiatry. 1998;64(4):510–5.Google Scholar
  86. 86.
    Laberge L, Begin P, Montplaisir J, Mathieu J. Sleep complaints in patients with myotonic dystrophy. J Sleep Res. 2004;13(1):95–100.Google Scholar
  87. 87.
    Gibbs JW 3rd, Ciafaloni E, Radtke RA. Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy. Sleep. 2002;25(6):662–5.Google Scholar
  88. 88.
    Dauvilliers YA, Laberge L. Myotonic dystrophy type 1, daytime sleepiness and REM sleep dysregulation. Sleep Med Rev. 2012;16(6):539–45. Scholar
  89. 89.
    Park JD, Radtke RA. Hypersomnolence in myotonic dystrophy: demonstration of sleep onset REM sleep. J Neurol Neurosurg Psychiatry. 1995;58(4):512–3.Google Scholar
  90. 90.
    Ciafaloni E, Mignot E, Sansone V, Hilbert JE, Lin L, Lin X, et al. The hypocretin neurotransmission system in myotonic dystrophy type 1. Neurology. 2008;70(3):226–30. Scholar
  91. 91.
    Martinez-Rodriguez JE, Lin L, Iranzo A, Genis D, Marti MJ, 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(3):287–90.Google Scholar
  92. 92.
    • Omori Y, Kanbayashi T, Imanishi A, Tsutsui K, Sagawa Y, Kikuchi YS, et al. Orexin/hypocretin levels in the cerebrospinal fluid and characteristics of patients with myotonic dystrophy type 1 with excessive daytime sleepiness. Neuropsychiatr Dis Treat. 2018;14:451–7. This study contradicts previous studies that suggested that low hypocretin levels in CSF may be responsible for the excessive daytime sleepiness observed in myotonic dystrophy type 1.Google Scholar
  93. 93.
    Charizanis K, Lee KY, Batra R, Goodwin M, Zhang C, Yuan Y, et al. Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron. 2012;75(3):437–50. Scholar
  94. 94.
    Vucic S, Cheah BC, Kiernan MC. Maladaptation of cortical circuits underlies fatigue and weakness in ALS. Amyotroph Lateral Scler. 2011;12(6):414–20. Scholar
  95. 95.
    Rabkin JG, Gordon PH, McElhiney M, Rabkin R, Chew S, Mitsumoto H. Modafinil treatment of fatigue in patients with ALS: a placebo-controlled study. Muscle Nerve. 2009;39(3):297–303. Scholar
  96. 96.
    Annane D, Moore DH, Barnes PR, Miller RG. Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy. Cochrane Database Syst Rev. 2006;3:CD003218. Scholar
  97. 97.
    Bye PT, Ellis ER, Issa FG, Donnelly PM, Sullivan CE. Respiratory failure and sleep in neuromuscular disease. Thorax. 1990;45(4):241–7.Google Scholar
  98. 98.
    Ebben MR, Shahbazi M, Lange DJ, Krieger AC. REM behavior disorder associated with familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2012;13(5):473–4. Scholar
  99. 99.
    Chokroverty S, Bhat S, Rosen D, Farheen A. REM behavior disorder in myotonic dystrophy type 2. Neurology. 2012;78(24):2004. Scholar

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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Jorge L. Morales-Estrella
    • 1
  • Loutfi S. Aboussouan
    • 1
    Email author
  1. 1.Respiratory InstituteCleveland ClinicClevelandUSA

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