Myotonic Dystrophy Type 1 (DM1)
Conditions
Brief summary
Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases in adults. As respiratory dysfunction is the most common cause of death in patients with DM1, a respiratory disease progression must be monitored combining symptom screening and respiratory function testing, in order to identify the appropriate time to initiate non invasive ventilation (NIV). Dyspnea, one of the main respiratory symptoms, has been little studied in patients with DM1. The main objective of this study is to provide the first multidimensional description of dyspnea in patients with DM1. The secondary objectives are: * To compare respiratory symptoms according to the presence or not of criteria from respiratory function testing to initiate NIV * To assess associations between dyspnea and respiratory function testing * To assess associations between dyspnea and number of Cytosine Thymine Guanine (CTG) repeats * To assess associations between dyspnea and muscular strength * To assess associations between dyspnea and BMI * To assess associations between dyspnea and anxiety or depression * To assess associations between dyspnea and cognitive impairment * To assess associations between dyspnea and quality of life.
Interventions
OTHERDyspnea
questionnaires
Sponsors
CHU de Reims
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* patient with myotonic dystrophy type 1 confirmed by genetic analysis * with an age older than 18 years
Exclusion criteria
* an ongoing or recent (i.e. within the last 4 weeks prior to study recruitment) medical condition, including pulmonary exacerbations * patient already under non-invasive mechanical ventilation
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Dyspnea | Month 6 | Borg scale at rest and after 6 minute walking test |
Countries
France
Outcome results
None listed