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Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients

This study has been completed.
Central Hospital, Nancy, France
Information provided by:
University of Nancy Identifier:
First received: November 15, 2010
Last updated: NA
Last verified: November 2010
History: No changes posted

Myotonic dystrophy Type 1 (MD1, Steinert's disease), an autosomal dominant multisystem disease, is of the most common muscular dystrophies in adults, with a European prevalence of 3-15/100 000. The disease course is progressive, associating muscular weakness, wasting and myotonia. Respiratory dysfunction is common, involving a restrictive ventilatory abnormality and alveolar hypoventilation, originating from respiratory muscle weakness. Depending on the degree of impairment of their lung function, the quality of life and the prognosis of MD1 patients may be very variable. However, time course and prevalence of such respiratory function impairment have not been clearly identified. More importantly, factors able to predict poor respiratory outcome have not been defined and therefore early prognosis can not be assessed during the follow-up of these patients. In other neuromuscular disorders, especially Amyotrophic Lateral Sclerosis (ALS), postural spirometry has been recommended to improve the detection of diaphragmatic involvement and some authors have suggested that the supine fall in the forced vital capacity could be used to initiate noninvasive positive pressure ventilation and predicts some respiratory symptoms.

In a sample of ambulatory patients with MD1, our study was designed to prospectively achieve two aims: 1) to assess the respective prevalence of a ventilatory restrictive pattern, respiratory muscle weakness, hypoxemia and hypercapnia and 2) to evaluate whether postural changes in lung volumes contribute to sensitize the diagnosis of respiratory weakness and could be used as a predictor of poor respiratory function, including hypoxemia, hypercapnia and restrictive ventilatory disease.

Condition Intervention
Myotonic Dystrophy Other: Supine spirometry

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Lung Function Impairment and Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients

Resource links provided by NLM:

Further study details as provided by University of Nancy:

Primary Outcome Measures:
  • Evidence of lung function impairment [ Time Frame: 1 year on average (annual regular follow-up) ]
    Evidence of ventilatory restriction assessed by lung function testing or hypoxemia or hypercapnia assessed by arterial blood gases analysis

Secondary Outcome Measures:
  • predictive factors of lung function impairment [ Time Frame: 1 year on average (annual regular follow-up) ]
    Using results of upright and supine spirometry we intend to define variables that could predict poor respiratory outcome

Enrollment: 58
Study Start Date: April 2008
Study Completion Date: June 2010
Primary Completion Date: June 2010 (Final data collection date for primary outcome measure)
Intervention Details:
    Other: Supine spirometry
    In addition to the current upright lung function evaluation we performed a supine spirometry
    Other Name: Supine lung function testing
Detailed Description:

Materials and Methods :


Adult ambulatory patients (18 years of age and older) with a clinical diagnosis of myotonic dystrophy type I were investigated prospectively as part of routine follow-up, from april 2008 to june 2010. Patients were clinically evaluated in the department of "Internal Medicine" and lung function was assessed in the department of "Pulmonary Function Testing", both from the University Hospital of Nancy. Pulmonary tests were ordered for clinical indications, not part of a study protocol. The supine evaluation was added of the conventional lung function testing. All individual were examined and categorized according to a standardized five-point muscular-impairment rating scale, in which a score of 1 indicates no muscular impairment, 2 minimal signs without distal weakness except for digit flexors, 3 distal weakness without proximal weakness except for elbow extensors, 4 moderate proximal weakness, and 5 severe weakness (MIRS).

Lung and respiratory muscle function:

All pulmonary function tests met or exceeds applicable standards of the European Respiratory Society / American Thoracic Society.

Spirometry was performed in the upright-seated position and in the supine position. Respiratory function data were compared with the predicted normal values obtained by the European Community for Steel and Coal and expressed as percentage of the normal value. The flow/volume curve and lung volumes were respectively assessed by an open-circuit spirometry and plethysmography.

Maximal Inspiratory Pressure (MIP) and Maximal Expiratory Pressure (MEP) were both measured in the seated position using a standard flanged mouthpiece.MIP was measured from Residual Volume (RV) and MEP was measured from Total Lung Capacity (TLC), both in a standard manner. The manoeuvres were repeated at least three times, or until two identical readings were obtained, and the best value was taken. Respiratory Muscle Strength (RMS) was defined as the mean of MIP and MEP expressed as a percent of the predicted values.

Arterial sampling and blood gas analysis :

Arterial blood gases were drawn at rest from the radial artery of the nondominant arm while the patient was comfortably seated for at least 10 minutes. A sterile, self-filling and disposable pre-heparinized system was used to take 1.5 ml of arterial blood.

Arterial oxygen partial pressure (PaO2) and arterial carbon dioxide partial pressure (PaCO2) were determined within 10 minutes after sampling. Room temperature and barometric pressure were recorded on a daily basis and were used to adjust calibrations and measurements. Quality control of the blood-gas equipment was performed twice a day, using standard solution.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • clinical diagnosis of myotonic dystrophy type 1
  • 18 years of age and older
  • must be able to perform reproducible ventilatory manoeuvres

Exclusion Criteria:

  • required non-invasive ventilation
  • non reproducible spirometry results
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Please refer to this study by its identifier: NCT01242007

University Hospital of Nancy
Vandoeuvre-lès-Nancy, France, 54511
Sponsors and Collaborators
University of Nancy
Central Hospital, Nancy, France
Principal Investigator: Bruno Chenuel, MD, PhD University of Nancy
  More Information

Responsible Party: Chenuel /Pr, University of Nancy Identifier: NCT01242007     History of Changes
Other Study ID Numbers: UNBC-11102010
Study First Received: November 15, 2010
Last Updated: November 15, 2010

Keywords provided by University of Nancy:
Myotonic dystrophy
Steinert's disease

Additional relevant MeSH terms:
Myotonic Dystrophy
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Myotonic Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn processed this record on September 21, 2017