title: Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1.
abstract: The aim of this study was to estimate the prevalence and nature of sleep breathing disorders in Myotonic dystrophy type 1 (DM1). We wanted to determine whether there is a relationship between sleep breathing disorders and clinical parameters such as pulmonary function, degree of neuromuscular impairment, daytime sleepiness, and fatigue. This will help assess the prevalence of DM1 patients requiring nocturnal ventilatory treatments. We studied a random sample of 40 unrelated patients and found that 22/40 patients had obstructive sleep apnoea. Of these 22 patients, five showed also periodic breathing and four showed sleep hypoventilation. Nine patients were put on nocturnal ventilation following clinical and instrumental evaluations. Our study reveals that obstructive sleep apnoea is very common in these patients, but cannot be predicted on the basis of clinical-neurological features and diurnal functional respiratory tests. Our data emphasize that a periodical evaluation by polysomnography should be mandatory to ascertain, and treat if necessary, the presence of obstructive sleep apnoea, periodic breathing or nocturnal hypoventilation.
authors.affiliation: Clinical Epileptology and Experimental Neurophysiology Unit, Neurological Institute Foundation Carlo Besta, Milan, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pincherle
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Patruno
authors.forename: Paola
authors.initials: P
authors.lastname: Raimondi
authors.forename: Sabrina
authors.initials: S
authors.lastname: Moretti
authors.forename: Ambra
authors.initials: A
authors.lastname: Dominese
authors.forename: Filippo
authors.initials: F
authors.lastname: Martinelli-Boneschi
authors.forename: Maria Barbara
authors.initials: MB
authors.lastname: Pasanisi
authors.forename: Eleonora
authors.initials: E
authors.lastname: Canioni
authors.forename: Franco
authors.initials: F
authors.lastname: Salerno
authors.forename: Francesco
authors.initials: F
authors.lastname: Deleo
authors.forename: Roberto
authors.initials: R
authors.lastname: Spreafico
authors.forename: Renato
authors.initials: R
authors.lastname: Mantegazza
authors.forename: Flavio
authors.initials: F
authors.lastname: Villani
authors.forename: Lucia
authors.initials: L
authors.lastname: Morandi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004562:Electrocardiography; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000453:epidemiology* / Q000503:physiopathology*; D017286:Polysomnography; D012119:Respiration; D012891:Sleep Apnea Syndromes / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D012894:Sleep Stages; D012122:Ventilators, Mechanical; D055815:Young Adult