Our working groups

DMD Care UK has joined with Pathfinders Neuromuscular Alliance to improve standards of care for adults living with DMD. Our working groups will be making recommendations for adult care and transition into adult care, and we plan to consult with this group on all aspects – from recommending and implementing improvements, to educating healthcare professionals in adult care. 

The bone and endocrine working group focuses on the DMD standards of care relating to bone health – including fracture prevention and scoliosis management, adrenal insufficiency and crisis management, growth and puberty. Their recommendations for care in these areas across the UK have been endorsed by the British Society of Paediatric Endocrinology and Diabetes (BSPED).

The Bone and Endocrine working group is made up of the following healthcare professionals and patient representatives: 

Dr Jarod Wong, University of Glasgow (Chair); Vici Richardson (Patient Representative); Kerry Shippey (Patient Representative); Dr Talat Mushtaq, Leeds Teaching Hospitals; Dr Harshini Katugampola, Great Ormond Street Hospital; Dr Raja Padidela, Manchester University; Dr Nick Shaw, Birmingham Women and Children’s Hospital; Dr Claire Wood, Newcastle University 

The cardiac working group are focusing on heart monitoring, heart care and prophylactic treatment recommendations in the UK. They will be working with the adult care group to create a continuum of care recommendations from diagnosis through transition and into adulthood. The group will also be looking at referral pathways, monitoring and treatment options for female carriers of DMD.

Their recommendations are currently under wider consultation across North Star centres and will be published here as soon as they are finalised.

The cardiac working group is made up of the following healthcare professionals and patient representative:   

Dr John Bourke, Newcastle upon Tyne Hospitals Trust (Chair); Lisa Kuhwald (Patient Representative); Prof. Ros Quinlivan, University College London; Dr Caroline Coates, Greater Glasgow & Clyde NHS Trust; Prof. Zaheer Yousef, Cardiff and Vale University Health Board; Dr Adrian Morley Davies, The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust; Dr Maria Ilina, Scottish Paediatric Cardiac Service; Dr Stam Kapetenakis, Guys and St Thomas’ NHS Trust; Dr William Bradlow, University Hospitals Birmingham NHS Foundation Trust; Dr Ashish Chikermane, The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust; Dr Michela Guglieri, Newcastle University; Dr Matthew Fenton, Great Ormond Street Hospital; Dr Konstantinos Savvatis, UCL Hospitals NHS Foundation Trust; Dr Marianela Schiava, Newcastle University

This working group is yet to be convened. The group will cover care at the point of diagnosis and newborn-screening considerations. 

Support for families at the time of diagnosis will be one of the areas of focus within the psychosocial care working group and wider project funded by the Duchenne Research Fund (DRF).

The emergency care working group is currently working on the Duchenne UK In Case of Emergencies app for people with DMD or their parents/carers. This app will provide vital information, tailored to individual patients, for use in the event of an emergency by a first responder team, emergency services, A&E staff or other medical professional. It will display vital information about how to treat DMD, such as the patient’s steroid use, considerations before emergency surgery and the use of anaesthetics. The app will be launched shortly and will be available to download for free on the App Store and the Google Play store.

We then plan to expand the working group and look at raising awareness of DMD amongst medical professionals, so that the best and most appropriate care is given in any emergency situation. 

There will be links between this group and many others - including bone and endocrine around adrenal crisis; the cardiac group about the heart in an emergency; the respiratory group for guidance on use of oxygen and anaesthetics.

The Emergency Care working group is currently made up of the following healthcare professionals and patient representatives: 

Dr Vasantha Gowda, Evelina London Children’s Hospital (Chair); Nick Catlin (Patient Representative); Cathy Turner, Newcastle University

We have brought the patient representatives from each of the working groups together in this one forum. The family focus group is made up of adults living with DMD and parents or carers of children and young people with DMD, with involvement in one or more care areas of this project. We consult with them to understand the patient and family viewpoint and the real-life experience of care across the UK. 

One important activity let by this working group has been the patient and family survey – a comprehensive questionnaire across all aspects of care that was carried out in July 2021. With over 160 responses, this has given us a rich set of data and shows which areas of care are delivered well and where the real priorities lie for urgent improvements. We will be publishing results from this work over the coming months – thank you to all the families who took part!

This working group is yet to be convened. It will cover diet and nutrition advice and good practice, access to a specialist dietician and dentistry and also standards of care around reflux, swallowing, constipation and the use of gastrostomy.

This working group is yet to be convened. It will have important links with the Emergency Care and Bone and Endocrine groups.

We know from our patient and family survey, and from talking to neuromuscular clinical specialists, that psychological, psychiatric and wellbeing support is one of the areas of care most desperately lacking in DMD. 

This working group will bring together new clinical psychologists with specialist knowledge and experience of DMD, as well as dedicated neuro-psychiatrist time and support, to carry out much needed research into how to best support families and people with DMD from the point of diagnosis throughout their lives. You can download the family guide to the project  here.

The psychosocial group is made up of the following healthcare professionals and patient representatives: 

Prof. Volker Straub, Newcastle University (Chair); Dr Janet Hoskins, University of East London; Dr Jon Rey-Hastie, Pathfinders Neuromuscular Alliance (Patient Representative); Sheli Rodney, DRF (Funder/Patient Representative); Prof. Ros Quinlivan, University College London; Dr Michela Guglieri, Newcastle University; Nick Catlin, Decipha (Patient Respresentative); Dr Jatin Pattni, University College London Hospitals Trust; Dr Panayiota Petrochilos, University College London Hospitals Trust; Kerry Rosenfeld, DRF (Funder/Patient Representative); Sophie Harrison, Newcastle University; Benjamin James, Pathfinders Neuromuscular Alliance (Patient Representative); Daniel Baker, Pathfinders Neuromuscular Alliance (Patient Representative)

The physiotherapy group includes adult and paediatric physiotherapists who are experts in the care of Duchenne muscular dystrophy patients. Focused on management of contractures and movement, this group has strong links with the respiratory working group and several specialist respiratory physios sit on both. 

At the moment, the group is formulating the first draft of recommendations ready for wider consultation with North Star colleagues, whilst also looking at areas where the 2018 standard of care is not currently implemented and the reasons for this. They have also provided valuable input to a proposal for a clinical trial to investigate whether hydrotherapy is effective in DMD. 

The physiotherapy working group is made up of the following healthcare professionals and patient representatives:  

Anna Mayhew, Newcatle upon Tyne Hospitals Trust (Chair); Sejal Thakrar (Patient Representative); Marina di Marco, Glasgow University Hospital; Alex Pietrusz, London Queens Square Centre for NMD; Nicholas Emery, The Robert Jones and Agnes Hunt Orthopaedic Hospital Oswestry; Sunitha Narayan, University Hospital Southampton; Bryn Edwards, NM Centre Winsford; Heather McMurchie, Birmingham Heartlands Hospital; Rosanna Raab, Birmingham Heartlands Hospital; Alison Shillington, Alderhey Childrens’ Hospital; Marion Main, Great Ormond Street Hospital; Nicola Burnett, Great Ormond Street Hospital;Vic Selby, Great Ormond Street Hospital; Jassi Sodhi, Newcastle University; Lindsey Pallant, Leeds Teaching Hospital; Lauren Weinstien, Northwick Park Hospital; Meredith James, Newcastle upon Tyne Hospitals Trust; Lisa Edel, Great Ormond Street Hospital; Charlotte Massey, University College London Hospitals 

The respiratory working group works closely with those for physiotherapy and emergency care and, like cardiac, is linking up with the work led by Prof. Quinlivan in adult care to create a continuum of care recommendations from diagnosis through transition and into adulthood. The group will be looking at monitoring recommendations, treatment options, referral triggers and intervention for people with DMD. The issues of access to equipment and transitioning care into adult services is also an area of focus.

Their recommendations are currently under wider consultation across North Star centres and will be published here as soon as they are finalised.

The respiratory working group is made up of the following healthcare professionals and patient representatives: 

Dr Anne-Marie Childs, Leeds Teaching Hospitals (Chair); Prof. Ros Quinlivan, University College London; Dr Patrick Murphy Guys and St Thomas’ Hospital; Dr Ajit Thomas, Keele University; Dr Ronan Astin, University College London Hospitals Trust; Dr Chris Edwards, Leeds Teaching Hospitals; Dr Jane Heraghty, Evelina London Children’s Hospital; Dr Ben Messer, Newcastle upon Tyne Hospitals Trust; Dr Steve Bianchi, Royal Hallamshire Sheffield Hospital; Meredith James, Newcastle upon Tyne Hospitals Trust, Jassi Sodhi, Newcastle University; Dr Michela Guglieri, Newcastle University; Phillippa Farrant (Patient Representative); Vicki Cunningham (Patient Representative); Lisa Edel, Great Ormond Street Hospital; Dr Federica Truco, Royal Brompton Hospital; Charlotte Massey, University College London

The planning and management of care through transition from paediatric to adult care services is important across almost all areas of DMD care. This means that each working group (with the exception of diagnostics), will be asked to consider transition recommendations for their area. We will then bring representatives from each group together with the Adult Care group for discussions on how to recommend and improve coordination of transition across care areas.