Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients

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Brief Title

Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients

Official Title

Lung Function Impairment and Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients

Brief Summary

      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.

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.

Study Type


Primary Outcome

Evidence of lung function impairment

Secondary Outcome

 predictive factors of lung function impairment


Myotonic Dystrophy


Supine spirometry


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

April 2008

Completion Date

June 2010

Primary Completion Date

June 2010

Eligibility Criteria

        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




18 Years - N/A

Accepts Healthy Volunteers



Bruno Chenuel, MD, PhD, , 

Location Countries


Location Countries


Administrative Informations



Organization ID


Study Sponsor

University of Nancy


 Central Hospital, Nancy, France

Study Sponsor

Bruno Chenuel, MD, PhD, Principal Investigator, University of Nancy

Verification Date

November 2010