Myotonic Muscular Dystrophy : Another Step Toward a First Treatment

Main Category: Muscular Dystrophy / ALS
Article Date: 28 Oct 2005 - 0:00 PDT

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Researchers from the Quebec City University Hospital Research Center and Université Laval have taken another step toward a first treatment for myotonic muscular dystrophy. The research team directed by neurologist Jack Puymirat has developed a therapeutic gene that neutralizes the effects of the genetic anomaly in mice carrying the human gene responsible for myotonic dystrophy. The discovery paves the way for the development of a specific treatment for this as of yet incurable disease. This major breakthrough was announced at the opening of the 5th International Conference on Myotonic Dystrophy, which takes place in Quebec City until October 22.

Myotonic muscular dystrophy, also called Steinert's disease after the doctor who first described it in 1909, is the most frequent form of muscular dystrophy among adults. Its prevalence is estimated at one case for every 10,000 people in most countries. However, this frequency is 20 times higher in the Charlevoix and Saguenay-Lac-St-Jean regions, where one person out of 500 is estimated to carry the disease.

Myotonic muscular dystrophy affects males and females and its symptoms can vary greatly from one affected individual to the next. The congenital forms of the disease increase mortality rate from 19 deaths per 1000 births in the general population to 160 deaths per 1000 births. It also reduces life expectancy, with most of the people affected by the disease dying between the age of 45 and 55.

Thanks to a $3.5 million grant from Association française de lutte contre les myopathies, Dr. Puymirat's research team and French colleagues will now verify whether the therapeutic gene can effectively restore normal functions in muscular cells from affected mice. Results of these tests should be available by 2008 and, if positive, will lead to clinical trials on humans.

The international conference currently taking place in Quebec City brings together over one hundred specialists from around the world to present and discuss the latest breakthroughs and potential treatments. For the first time, more than 80 people affected by myotonic muscular dystrophy from Europe and North America have been invited to actively take part in the conference.

Dr. Jack Puymirat is professor at Université Laval's Faculty of Medicine, Chief researcher at Québec University Hospital's Human Genetics Unit, and neurologist at the Quebec City University Hospital and the Institut de réadaptation en déficience physique de Québec (IRDPQ). He is internationally known for his work on myotonic muscular dystrophy.

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