title: Daytime sleepiness and myotonic dystrophy.
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.
authors: ÉCOBES-Recherche et transfert, Cégep de Jonquière, 3791, rue de la fabrique, Jonquière, Québec, Canada, G7X 7W2. luc.laberge@cjonquiere.qc.ca
authors: Luc
authors: L
authors: Laberge
authors: Cynthia
authors: C
authors: Gagnon
authors: Yves
authors: Y
authors: Dauvilliers
mesh_terms: D017668:Age of Onset; D017398:Alternative Splicing; D001559:Benzhydryl Compounds / Q000627:therapeutic use; D001923:Brain Chemistry; D001933:Brain Stem / Q000503:physiopathology; D003131:Combined Modality Therapy; D045422:Continuous Positive Airway Pressure; D006970:Disorders of Excessive Somnolence / Q000188:drug therapy / Q000453:epidemiology / Q000209:etiology* / Q000628:therapy; D005221:Fatigue / Q000209:etiology; D006801:Humans; D000077408:Modafinil; D009223:Myotonic Dystrophy / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D065636:Myotonin-Protein Kinase; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D015995:Prevalence; D017346:Protein Serine-Threonine Kinases / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D011788:Quality of Life; D012720:Severity of Illness Index; D012891:Sleep Apnea Syndromes / Q000209:etiology / Q000628:therapy; D012895:Sleep, REM / Q000502:physiology; D012919:Social Behavior; D018911:Trinucleotide Repeats
chemical_list: D001559:Benzhydryl Compounds; C585517:DMPK protein, human; D009419:Nerve Tissue Proteins; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases; D000077408:Modafinil