Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years

Study Overview
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Brief Summary
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The aim of this study is to determine the factors associated with alveolar hypoventilation in terms of cognitive impairment, daytime sleepiness, respiratory function, nocturnal respiratory events This evaluation will clarify the clinical phenotypes of respiratory disease in myotonic steinert dystrophy.

Official Title
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Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years

Conditions
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Myotonic Dystrophy, Steinert

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Myotonic dystrophy of Steinert genetically confirmed (number of known CTG repeats), in its classical form of adult Exclusion Criteria: Inability to perform EFR assessment or polysomnography Moderate to severe asthma according to the GINA classification moderate to severe COPD (> stage 1 of the GOLD recommendations) Other significant respiratory pathology Patient already on NIV, CPAP or under oxygen therapy Impossibility of receiving enlightened information Inability to participate in the entire study

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| PaCO2> 45 mmHg<br>Diurnal hypercapnia defined by PaCO2> 45 mmHg | |
| PaCO2 <45 mmHg<br>PaCO2 diurnal within the limits of normal (PaCO2 <45 mmHg) | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change of measurement of spirometry | composite predictive factors of alveolar hypoventilation | every year during 5 years | 
| Change respiratory force | composite predictive factors of alveolar hypoventilation to change Inspiratory and expiratory force | every year during 5 years | 
| Change CO2 response (Read test) | composite predictive factors of alveolar hypoventilation | every year during 5 years | 
| Change subjective sleepiness (Epworth) | composite predictive factors of alveolar hypoventilation | every year during 5 years | 
| change Krupp's Fatigue Severity Scale (KFSS) | composite predictive factors of alveolar hypoventilation This is a short questionnaire of 9 questions to which the patient responds on a Likert scale ranging from 1 to 7 | every year during 5 years | 
| change cognitive impairment by Trail Making Test A & B | composite predictive factors of alveolar hypoventilation Trail Making Test is a neuropsychological test of visual attention and task switching. It consists of two parts in which the subject is instructed to connect a set of 25 dots as quickly as possible while still maintaining accuracy. | every year during 5 years | 
| change Oximetry | composite predictive factors of alveolar hypoventilation | every year during 5 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Sleep Apnea Syndrome, Muscular Diseases, non invasive ventilation, Diaphragmatic Disorder