Myotonic Dystrophy Steinert disease

 

 

 

 

 

 

PROGRESS OF RESEARCH


International Myotonic Dystrophy Consortium Meeting (IDMC-7)

The seventh meeting of the consortium on Myotonic Dystrophy (IDMC-7) took place in Würzburg, Germany from September 9 until September 12, 2009. This meeting coincided with the 100th anniversary of the first description of the disease by Dr Gustav Steinert, who was born in Würzburg. This colloquium, which takes place every two years, brings together scientists and clinicians from different countries in order to discuss the progress of the research on this disease. Among the highlights, we should mention the advances on our understanding of the mechanisms by which the genetic mutation produces the manifestations of the disease. On the disease treatment front, one study conducted in the USA concerning to the administration of a growth hormone (IGF-1) did not show efficacy of this treatment of the disease manifestations, especially on muscle strength. Numerous presentations reported on the use of small molecules, called antisense oligonucleotides, able to neutralize the effects of the genetic anomaly. Intramuscular injections of these small molecules were able to improve the myotonia (what the patients describe as having locked hands) in a mouse model showing the signs of the disease. There is no evidence however, that this type of treatment could restore muscle strength or improve the other manifestations of this disorder. The advantage of these small molecules is their capacity for intravenous delivery, which could make them appealing to treat the numerous other disease manifestations. The main difficulty however, is their weak penetration into tissues, which limits their usefulness at the present. Even though these molecules bring some hope for the treatment of myotonic dystrophy, there are many obstacles to overcome before we can test them in humans. Another study demonstrated the efficacy of pentamidine, an antibiotic used to treat certain pneumonias, on the treatment of myotonia. There is no evidence however, of the effectiveness of this molecule to treat muscle weakness. Another important topic discussed during the meeting is the need for registries of patients who wish to participate in the research on the disease. We are pleased to announce the newly functional Quebec registry on myotonic dystrophy, debuting November 2009. This registry received the authorization of the CHUQ ethics committee. If you wish to receive more information on the registry or submit your participation, you can register either on the internet at: www.dystrophiemyotonique.chuq.qc.ca or by contacting the administrator of the registry by phone: 418-654-2186, by email: louise.desy@crchul.ulaval.ca or through snail mail: Registre sur la dystrophie myotonique, Unité de Génétique humaine, RC 9300, 2705 Blvd Laurier, Québec, G1V4G2.