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J Clin Neuromuscul Dis. 2007 Sep;9(1):252-5.

Myotonic dystrophy type 1 presenting with ventilatory failure.

Author information

1
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA. souayani@umdnj.edu

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.

METHOD:

Case series.

RESULTS AND DISCUSSION:

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).

CONCLUSION:

Myotonic dystrophy type 1 should be considered in the differential diagnosis of acute ventilatory failure in adults.

PMID:
17989589
DOI:
10.1097/CND.0b013e3181520095
[Indexed for MEDLINE]

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