title: Myotonic dystrophy type 1 presenting with ventilatory failure.
abstract: OBJECTIVE
  To report a series of patients with adult onset myotonic dystrophy type 1 (DM1) in whom the presenting symptom was ventilatory failure.
  
  
  BACKGROUND
  Ventilatory failure is a common complication of DM1 and may be a presenting symptom in the setting of anesthesia or surgery, but it is not known to be a heralding manifestation.
  
  
  METHODS
  Case series.
  
  
  CONCLUSIONS
  Three adults developed dyspnea leading to ventilatory failure, with no cardiac or pulmonary causes identified. Case 1 required intubation for ventilator support and was sedated with propofol. There was no clinical myotonia, and electromyography (EMG) demonstrated brief runs of myotonic discharges. Examination 3 weeks later off propofol revealed percussion myotonia, and EMG evidence of long runs of myotonic discharges. Genetic testing confirmed the diagnosis of DM1. Case 2 had cataracts and ptosis but no known diagnosis of DM and no previous neurological impairments. Case 3 was previously neurologically asymptomatic but her son had congenital DM1. The diagnosis was confirmed by EMG in cases 2 and 3, and both patients were managed with bilevel ventilation (BIPAP).
  
  
  CONCLUSIONS
  Myotonic dystrophy type 1 should be considered in the differential diagnosis of acute ventilatory failure in adults.
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA. souayani@umdnj.edu
authors.forename: Nizar
authors.initials: N
authors.lastname: Souayah
authors.forename: Peter Siao
authors.initials: PS
authors.lastname: Tick Chong
authors.forename: Michael
authors.initials: M
authors.lastname: Dreyer
authors.forename: Didier
authors.initials: D
authors.lastname: Cros
authors.forename: Jeremy D
authors.initials: JD
authors.lastname: Schmahmann
mesh_terms: D000328:Adult; D004576:Electromyography; D005192:Family Health; D005260:Female; D006801:Humans; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000145:classification / Q000150:complications* / Q000235:genetics; D009460:Neurologic Examination / Q000379:methods; D010936:Plant Extracts / Q000235:genetics; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000209:etiology*
chemical_list: C101544:MD1; D010936:Plant Extracts