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Daytime Sleepiness and Myotonic Dystrophy

  • Sleep (M Thorpy and M Billiard, Section Editors)
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Abstract

Myotonic dystrophy type 1 (DM1) represents the 1 chronic neuromuscular disease with the most prominent sleep disorders, including excessive daytime sleepiness (EDS), sleep apneas, periodic leg movements during sleep, and rapid eye movement sleep dysregulation. The large majority of DM1 patients complain about EDS, which may have a deleterious impact on work, domestic responsibilities, social life, and quality of life. Here, we review the extant literature and report that studies are largely supportive of the view that DM1-related EDS is primarily caused by a central dysfunction of sleep regulation rather than by sleep-related disordered breathing (SRDB) or sleep fragmentation. The pathogenesis of EDS in DM1 still remains unclear but several arguments favor a model in which brain/brainstem nuclear accumulations of toxic expanded DM protein kinase (DMPK) gene are responsible for aberrant genes expression in modifying alternative splicing. Regarding management, early recognition, and treatment of SRDB with nocturnal noninvasive mechanical ventilation is first mandatory. However, despite its appropriate management, EDS often persists and may require a psychostimulant but no consensus has been yet established. Further studies are needed to clarify the discrepancies between daytime sleepiness/fatigue complaints and subjective/objective measurement of daytime sleepiness, the role of cognitive impairment and apathy in this relationship, and its reversibility with appropriate management.

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Disclosure

Luc Laberge declares no conflict of interest. Cynthia Gagnon declares no conflict of interest. Yves Dauvilliers has received consulting fees/honoraria from UCB, Bioprojet, Cephalon, Novartis, and JAZZ, served on advisory boards for UCB, Bioprojet, Cephalon, and JAZZ, and served on speakers’ bureaus for UCB, Bioprojet, Cephalon, and Novartis.

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  1. ÉCOBES–Recherche et transfert, Cégep de Jonquière, 3791, rue de la fabrique, Jonquière, Québec, Canada, G7X 7W2

    Luc Laberge

  2. Département des sciences de la santé, Université du Québec à Chicoutimi, 555, boul. de l’Université, Chicoutimi, Québec, Canada, G7H 2B1

    Luc Laberge

  3. École de réadaptation, Faculté de médecine et des sciences de la santé, Université de Sherbrooke, 3001, 12e Avenue Nord, Sherbrooke, Québec, Canada, J1H 5N4

    Luc Laberge & Cynthia Gagnon

  4. Service de Neurologie, Hôpital Gui-de-Chauliac, 80 avenue Augustin Fliche, 34295, Montpellier cedex 5, France

    Yves Dauvilliers

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  1. Luc Laberge
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Correspondence to Luc Laberge.

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Laberge, L., Gagnon, C. & Dauvilliers, Y. Daytime Sleepiness and Myotonic Dystrophy. Curr Neurol Neurosci Rep 13, 340 (2013). https://doi.org/10.1007/s11910-013-0340-9

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