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| ID | Type | Description | Link |
|---|---|---|---|
| 2009-A00588-49 | Other Identifier | ID-RCB number, ANSM |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| PaCO2> 45 mmHg | Diurnal hypercapnia defined by PaCO2> 45 mmHg | ||
| PaCO2 <45 mmHg | PaCO2 diurnal within the limits of normal (PaCO2 <45 mmHg) |
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| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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patient with a myotonic dystrophy of Steinert who consults in pneumology and who will have Respiratory functional exploration
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| Name | Affiliation | Role |
|---|---|---|
| Thierry Perez, MD | University Hospital, Lille | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre Hospitalier Regional D' Angers | Angers | France | ||||
| Ap-Hp Hu Paris Site Raymond Poincare |
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| ID | Term |
|---|---|
| D009223 | Myotonic Dystrophy |
| D012891 | Sleep Apnea Syndromes |
| D009135 | Muscular Diseases |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009140 | Musculoskeletal Diseases |
| D020967 | Myotonic Disorders |
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| every year during 5 years |
| Garches |
| France |
| Hôpital Calmette, CHRU | Lille | France |
| Chu Montpellier | Montpellier | France |
| Chu de Nantes :Site Hôtel-Dieu- Hme - Nantes 1 | Nantes | France |
| Ap-Hp Hu Pitie Salpetriere | Paris | France |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D001049 | Apnea |
| D012120 | Respiration Disorders |
| D012140 | Respiratory Tract Diseases |
| D020919 | Sleep Disorders, Intrinsic |
| D020920 | Dyssomnias |
| D012893 | Sleep Wake Disorders |