Duchenne and Becker muscular dystrophies: family screening and molecular diagnosis - nonsystematic review
Conseil d'Evaluation des Technologies de la Sante du Quebec
Record ID 31998008687
This report includes an overview of Duchenne and Becker muscular dystrophies, their management and genetic aspects. This is followed by a discussion of the diagnosis-and-screening strategy, the test validity, and various aspects of the Quebec context. Lastly the social and ethical issues raised by these new technologies are explored.
The Conseil considers that the conditions are in place for recommending that a service be instituted for the genotypic diagnosis of patients with Duchenne or Becker muscular dystrophy. The service would include screening for women carrying a mutation on the dystrophin gene and, if necessary, the prenatal diagnosis of the disease. A single laboratory would suffice to meet the province's needs in this area. It would have to be accredited and meet the required quality standards.
English language abstract:
An English language summary is available
- Muscular Dystrophies
Conseil d'Evaluation des Technologies de la Santé du Québec
Conseil d'Evaluation des Technologies de la Santé du Québec, 2021, avenue Union, #1040, Montréal, Québec H3A S29, Canada. Tel: 514-873-2563; FAX: 514-873-1369
Conseil d'Evaluation des Technologies de la Sante du Quebec (CETS)