Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1

Alessandro Pincherle, Vincenzo Patruno, Paola Raimondi, Sabrina Moretti, Ambra Dominese, Filippo Martinelli-Boneschi, Maria Barbara Pasanisi, Eleonora Canioni, Franco Salerno, Francesco Deleo, Roberto Spreafico, Renato Mantegazza, Flavio Villani, Lucia Morandi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)219-224
Number of pages6
JournalNeuromuscular Disorders
Issue number3
Publication statusPublished - Mar 2012


  • Daytime sleepiness
  • Fatigue
  • Lung function tests
  • Myotonic dystrophy type 1
  • Obstructive sleep apnea
  • Sleep-breathing disorders

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology


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