| Titre : | The Quebec myotonic dystrophy-based population registry |
| contenu dans : | |
| Auteurs : | 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Puymirat J ; Bouchard JP ; Mathieu J ; Cossette L ; Bassez G |
| Type de document : | Article |
| Année de publication : | 2011 |
| Pages : | p. 43 |
| Langues: | Anglais |
| Mots-clés : | colloque |
| Résumé : | A DM registry is essential to both identify potential participants in clinical trials and to follow the natural history of the disease. Such a registry will serve as an indicator of the effectiveness of the health care provided to the DM population and will identify health structures and programs to be developed to allow effective provision of services and prevention. A Quebec DM population-based registry has been developed over the last 10 years. It includes the Genemu registry (data of Quebec, Montreal & Sherbrooke) and the DM registry of the Saguenay-Lac-St-Jean. In December 2010, the Quebec DM population-based registry contained: 1183 individuals including 892 patients with DM1, 2 patients with DM2 and 145 non-affected subjects. Among these patients, 667 patients were clinically evaluated in a standardized manner. 44% of patients were male and 55% female. Patient's distribution revealed that 3% were aged less than 18 years, 9% between 19 and 30 years, 44% between 31 and 50 years and 44% above 50 years. The congenital form represents 5% of the patients, the infantile form; 15%, the adult form 57% and late onset form 23%. The form was not determined in 6,5% of patients. The muscular impairment determined by the Muscular Impairment Rate Scale (MIRS) score shows that 28% of patients have a MIRS at 1 and 2, 27% with a MIRS = 3 and 42% with MIRS at 4 and 5. The MIRS was not available for 6,7% of the patients. The most frequent manifestatons are Myotonia (80%), cataracts (56%), digestive (52%) and excessive daytime sleepiness (EDS) (50%), whereas cardiac conduction defect (27%), diabetes (13%) and thyroid (10,7%) were less frequent. Interestingly, several manifestations (thyroid, cardiac conduction defect, cholecystectomy and EDS) often occur in patients with less than the threehold of 200 CTG repeats whereas diabetes was only observed in patients with more than 800 CTG repeats in blood. Finally some manifestations (diabetes, thyroid, EDS, and patients with pacemakers) were predominantly observed in females. Conclusion: DM registry represents a unique source of information on the natural history of the disease, and is therefore essential for the understanding of the mechanisms of the disease. |
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