Duchenne muscular dystrophy (Duchenne) is a severe recessive X-linked form of muscular dystrophy characterised by rapid progression of muscle degeneration, eventually leading to paralysis and early death. This affects one in 3500 males, making it the most prevalent of muscular dystrophies.
In general, only males are affected, though females can be carriers. The disorder is caused by a mutation in the dystrophin gene, located in humans on the X chromosome. The Dystrophin gene codes for the protein dystrophin, an important structural component within muscle tissue. Dystrophin provides structural stability to the dystroglycan complex (DGC), located on the cell membrane.
The Muscle Centre Monitoring Project is born out of feedback from families that Action Duchenne works with, that they experience wildly differing standards of care throughout the UK.
Additionally with the Health and Social Care Bill (2011) proposing significant changes to the structure of service provision in England, the Muscle Centre project will be an important tool in monitoring whether these changes make provision more or less accessible throughout the country.
Action Duchenne’s Muscle Centre Monitoring Project (MCMP) sets out to provide families accessing treatment facilities for Duchenne Muscular Dystrophy, (DMD), information about where in the UK they can find the services laid out in the Internationally agreed Standards of Care for DMD (PDF).
The MCMP aims to provide accurate snapshots of Muscle Centre’s capacity and range of treatments available. It will provide objective information and does not set out to ‘review’ the quality of service available rather display the range of services available geographically.
Action Duchenne believes that the best way to ensure that all those living with DMD have access to the range of treatments set out in the standards of care is by the establishment of Centres of Excellence, where all medical care can be provided in one multidisciplinary team.
Data in the first instance is collected from Neuromuscular Consultants and NHS Trusts as service providers, who will be asked to fill out either a hardcopy form or digital questionnaire.
2.1.1 All data supplied by clinicians will be verified against family’s experiences as service users. The full range of treatments as set out in the standard of care matrix may not be relevant or appropriate to each child and each clinical visit. The matrix and the verification system exist so that parents, when it is appropriate for their child to receive any treatment, are able to question their service provider and discover which one offers the treatments and Health Care they need.
2.1.2 Each individual service is given a weighting of 0, 1, 2 or 3. Action Duchenne has weighted services according to the importance in providing Health Care for Duchenne patients. If Centres do not provide a specific service or the Centre providers are “not sure” then that will be scored 0. Essential Services eg 6 monthly consultation sessions are scored 3 points. High priority services are scored 2 points and priority services 1 point. Action Duchenne has discussed this scoring system with clinicians, researchers and families. The matrix was also discussed and agreed at an Action Duchenne National meeting on May 21st 2011. The overall scores for each Muscle Centre provides an indication of the level of services provided by each Centre but does not indicate any comparative measure of quality or delivery. The current full weighting system for services is available from the Curator.
2.1.3 All data collected, (and any dispute between Centre’s supplied figures and families experiences) will be verified through phone/email by the Action Duchenne Curator, (Eilidh Macpherson). The final decision on the provision and services displayed will be made by Action Duchenne. When available links to publicly available information on service provision, (on websites etc), will also be displayed.
Once verified the data will be added to Action Duchenne’s Muscle Centre microsite. The site will clearly display all available data.
Action Duchenne will be responsible for all moderation of the Muscle Centre micro site and any points of dispute should be raised with the Action Duchenne Curator email@example.com.
The site will be fully updated every 12 months, with Muscle Centres featured contacted. The site will display information on changes in levels of service provision.
Where major changes in services occur, or in the event of inaccurate information being displayed, the site will be updated outside of the 12 monthly reviews. Action Duchenne can not be held responsible for the accuracy of information supplied by Muscle Centres or NHS Trusts.
For more information on Action Duchenne’s Muscle Centre Monitoring Project –please contact the curator Eilidh Macpherson firstname.lastname@example.org 020 8555 9955 / 07917 051 446
|1||Newcastle Muscle Centre, Institute of Genetic Medicine|
|2||John Radcliffe Hospital Oxford|
|3||Frenchay Hospital Bristol|
|3||Gorseinon Hospital Swansea|
|3||MRC Centre for Neuromuscular Diseases London|
|6||Derriford Hospital Plymouth|
|7||Kings College Hospital London|
|8||Walton Centre for Neurology and Neurosurgery NHS Foundation Trust|