Myotonic dystrophy type 1 presenting with ventilatory failure.
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.
Souayah
Nizar
N
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA. souayani@umdnj.edu
Tick Chong
Peter Siao
PS
Dreyer
Michael
M
Cros
Didier
D
Schmahmann
Jeremy D
JD
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*
C101544:MD1; D010936:Plant Extracts