Myotonic Dystrophy, Steinert
Conditions
Keywords
Sleep Apnea Syndrome, Muscular Diseases, non invasive ventilation, Diaphragmatic Disorder
Brief summary
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.
Interventions
None listed
Sponsors
University Hospital, Lille
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| change cognitive impairment by Trail Making Test A & B | every year during 5 years | 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. |
| change Oximetry | every year during 5 years | composite predictive factors of alveolar hypoventilation |
| Change of measurement of spirometry | every year during 5 years | composite predictive factors of alveolar hypoventilation |
| Change respiratory force | every year during 5 years | composite predictive factors of alveolar hypoventilation to change Inspiratory and expiratory force |
| Change CO2 response (Read test) | every year during 5 years | composite predictive factors of alveolar hypoventilation |
| Change subjective sleepiness (Epworth) | every year during 5 years | composite predictive factors of alveolar hypoventilation |
| change Krupp's Fatigue Severity Scale (KFSS) | every year during 5 years | 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 |
Countries
France
Outcome results
None listed