Myotonic Dystrophy Steinert disease

 

 

 

 

 

 

WHY A REGISTRY?

Myotonic Dystrophy is a rare disease with an incidence of 1/10,000 throughout the world. It is particularly frequent in the Saguenay-Lac St-Jean region where it affects 1/ 600 people. This disease is a multisystemic disorder, which affects not only skeletal muscles but also many other systems such as the eyes, the heart, the nervous and the endocrine systems. There is currently no available treatment for this disease. The genetic abnormality responsible for this disease was identified in 1989 and most efforts are focused on understanding how this abnormality causes the disease. Current research could lead to the development of treatments in the near future. These clinical trials will require a sufficient number of patients meeting to strict criteria. Because the number of available patients is limited and that they are often seen in separate clinics that treat neuromuscular diseases, we started developing a Quebec Registry for Myotonic Dystrophy. This Registry was developed at the centre hospitalier de Québec (CHUQ- CHUL) with the support of the French Association against Myopathies (AFM) and the Quebec Applied Medicine Genetic Network (RMGA) of the FRSQ.

 

The goals of this Registry are:

a. To develop research on Myotonic Dystrophy
b. To facilitate research by offering a large number of subjects affected by the disease
    to researchers
c. To improve our knowledge on the manifestations of this disease
d. To facilitate the participation of people with the disease to research projects and clinical trials
e. To establish contact between researchers, people with the disease and their families