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
English, French
Authors' objectives:

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.

Authors' recommendations: 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.
Authors' methods: Overview
Project Status: Completed
Year Published: 1997
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Canada
MeSH Terms
  • Dystrophin
  • Muscular Dystrophies
Organisation Name: Conseil d'Evaluation des Technologies de la Santé du Québec
Contact Address: 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
Contact Name: aetmis@aetmis.gouv.qc.ca
Contact Email: aetmis@aetmis.gouv.qc.ca
Copyright: Conseil d'Evaluation des Technologies de la Sante du Quebec (CETS)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.