Duchenne muscular dystrophy (policy currently under review)
The UK NSC policy on Duchenne muscular dystrophy screening in newborns
More Information
The muscular dystrophies are a group of disorders, caused by a genetic abnormality, that cause progressive weakness. Although genetic in origin, there are various reasons why an affected individual might have no family history of a similar condition. Some are severe and limit life expectancy, others relatively mild.
» Read more about muscular dystrophy on the Contact a Family website
Policy Position
Newborn screening is not recommended.
When replying to the current consultation, please use the comments form that you can download at the bottom of this page.
This policy is currently being reviewed as part of the UK NSC's regular review cycle of all policies.
The review process began in Apr 2011 and is estimated to be completed by Mar 2012.
The consultation on the expert review has now finished but you can still download the document here:
» Download the expert review for Duchenne muscular dystrophy (PDF document, 895KB)
The UK NSC will consider the review and any submissions made during the consultation period to reach a final policy decision. The decision will be available on this website when it is available.
Evidence Supporting the Policy
The Child Health Sub-Group of the UK NSC reported to the UK NSC in December 1999 that "at the present time it did not recommend that this programme should be included with other newborn biochemical screening programmes", having reviewed two HTA reports on screening for inborn errors of metabolism. The condition was assessed against UK NSC criteria early in 2004 and newborn screening was not recommended.
Child Health Sub-Group Report. Duchenne Muscular Dystrophy September 2004 (see below)
Stakeholders
Action Duchenne
Children Living with Inherited Metabolic Diseases
Duchenne Family Support Group
Genetic Alliance UK
Institute of Child Health
Muscular Dystrophy Campaign
Royal College of Midwives
Royal College of Paediatrics and Child Health
The stakeholder groups will be involved when the policy is next reviewed. If you think your organisation should be added, please contact us.
Related documents
Child Health Sub-Group Report - Duchene Muscular Dystrophy (September 2004) (PDF document, 34KB, 16/09/09)Consultation submission comments form (Word document, 48KB, 20/12/11)
Knowledge update on newborn screening for Duchenne Muscular Dystrophy (May 2011) (PDF document, 114KB, 16/12/11)
