Chest
Volume 121, Issue 2, February 2002, Pages 459-464
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Clinical Investigations
Neuromuscular Disease
Domiciliary-Assisted Ventilation in Patients With Myotonic Dystrophy

https://doi.org/10.1378/chest.121.2.459Get rights and content

Study objectives

Respiratory failure is found in many neuromuscular diseases, even when the lungs may be healthy, because of an inadequacy of the ventilatory pump. Long-term domiciliary ventilation is a well-established treatment in conditions such as postpoliomyelitis; however, its use in patients with respiratory failure secondary to myotonic dystrophy has not been well described. The purpose of this study was to review the use of domiciliary-assisted ventilation in these patients and to assess their response to treatment.

Design

Descriptive analysis of retrospective and prospective clinical data.

Setting

Inpatient, noninvasive respiratory-care unit in a tertiary referral center.

Patients

Sixteen patients with myotonic dystrophy, 13 of whom required ventilatory support.

Interventions and measurements

A retrospective study of all patients with myotonic dystrophy referred for assessment for assisted ventilation was performed, including results of arterial blood gas analysis, pulmonary function tests, and overnight oxygen saturation and transcutaneous carbon dioxide levels. A prospective reassessment of all patients established on domiciliary ventilation was performed, including measurements of quality of life.

Results

Results of arterial blood gas analysis showed a fall in mean Paco2 from 64.3 to 53.8 mm Hg (p < 0.05) on discharge after starting ventilation and a rise in mean Pao2 from 53.0 to 65.3 mm Hg (p < 0.05). There were three deaths, at 5 months, 32 months, and 57 months, respectively. The survivors received assisted ventilation for a mean period of 27 months (range, 2 to 76 months). At reassessment, improvements in arterial blood gas levels were maintained, with mean Paco2 of 52.4 mm Hg and Pao2 of 59.0 mm Hg. Mean overnight mean arterial oxygen saturation rose from 80.5 to 90.3% after the start of treatment (p < 0.001) and was maintained at 90.4% at reassessment. Mean transcutaneous Pco2 during sleep fell from 59.3 to 41.4 mm Hg (p < 0.05), and to 43.7 mm Hg at reassessment. There were no significant changes in spirometry or maximum mouth pressures. Compliance with treatment for our test group was lower than compliance in a group of age- and sex-matched postpoliomyelitis patients.

Conclusion

Use of domiciliary-assisted ventilation in patients with myotonic dystrophy is associated with prolonged survival and a sustained improvement in arterial blood gas tensions.

Section snippets

Patient Selection

All patients with myotonic dystrophy who were referred to the Respiratory Support and Sleep Center, Papworth Hospital, were identified and their case records were reviewed retrospectively. From 1989 to 1997, 16 patients were referred. Of the original 16 patients, 3 patients did not receive assisted ventilation and 3 patients died. The remaining 10 patients were admitted for reassessment between October 1997 and April 1998.

Initial Assessment

Clinical history was obtained from all patients, including presenting

Patient Characteristics

Of the 16 patients initially referred for assessment, 3 patients were found to have satisfactory physiologic results at initial assessment (Paco2 < 49 mm Hg and Pao2 > 60 mm Hg) and did not required assisted ventilation after a mean follow-up period of 2.5 years (range, 1.5 to 3.0 years). Of the 13 patients who commenced ventilatory support, there were 6 men and 7 women with mean age 47.9 years (range, 36 to 69 years). All were referred with a previously established diagnosis of myotonic

Discussion

Chronic hypercapnia is a common finding in patients with myotonic dystrophy and can occur with minimal signs of peripheral muscle weakness.14 There are few reports of long-term use of noninvasive ventilatory support in this condition. In a previous study,15 all patients with myotonic dystrophy required tracheostomy for long-term ventilation. Factors that may contribute to difficulties in establishing patients with myotonic dystrophy on noninvasive treatment include an irregular respiratory

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    Dr. Nugent was supported by funding from the Northern Ireland Postgraduate Council for Medical and Dental Education and the Doctor Samuel Ireland Turkington Research Scholarship, The Queen's University of Belfast, Northern Ireland.

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