This working group comprises:

Dr. James Lilleker (Chair), Consultant Neurologist, Manchester Centre for Clinical Neurosciences at Salford Royal NHS Foundation Trust, Manchester, UK.

PAEDIATRIC SUB-GROUP

Dr. Claire Wood (lead), NIHR Senior Clinical Lecturer and Honorary Consultant in paediatric endocrinology, Newcastle University.
Dr. Steph Borg, Paediatric Consultant in metabolic bone disease, Sheffield’s Children’s NHS Foundation Trust, Sheffield.
Dr. Alexander Chesover, Consultant in paediatric endocrinology and metabolic bone disorders, GOSH and the Royal National Orthopaedic Hospital, London.
Dr. Nicola Crabtree, Consultant Clinical Scientist, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham.
Dr. Christian de Goede, Consultant Paediatric Neurologist, Lancaster Teaching Hospitals NHS Foundation Trust, Preston.
Dr. Lydia Forestier-Zhang, MD Student, School of Medicine and Population Health,  University of Sheffield, Sheffield.
Dr. Jarod Wong, Consultant Paediatric Endocrinologist, University of Glasgow, UK.

ADULT SUB-GROUP

Professor Emma Duncan, Consultant Physician at Guy’s and St Thomas’ NHS Foundation Trust, London.
Dr Judith Bubbear, Consultant in Metabolic Bone Diseases, Royal National Orthopaedic Hospital, London.
Professor Emma Clark, Professor of Clinical Musculoskeletal Epidemiology & Deputy Head of Bristol Medical School & Head of Bristol Medical School (THS), Bristol.
Dr. Nicola Crabtree, Consultant Clinical Scientist, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham.
Dr. Channa Hewamadduma ,Consultant Neurologist, Sheffield Teaching Hospitals Foundation Trust, Sheffield.
Dr. James Lilleker, Consultant Neurologist, Manchester Centre for Clinical Neurosciences at Salford Royal NHS Foundation Trust, Manchester, UK.
Professor Peter Selby, Consultant Physician and Honorary Clinical Professor of Metabolic Bone Disease, University of Manchester NHS Foundation Trust.
Dr. Clare Thornton, Consultant Rheumatologist, University College London Hospitals NHS Foundation Trust, London.

PATIENT ADVOCATES

Ally Allen, mother of a teenage boy living with SMA.
Suzanne Glover, living with SMA.

This working group is led by:

• Dr. Anne-Marie Childs (Consultant Paediatric Neurologist, Leeds Teaching Hospitals NHS Foundation Trust, Leeds) and
• Lisa Edel (Specialist Respiratory Physiotherapist at Great Ormond Street Hospital for Children NHS Foundation Trust, London.)

This working group is led by:

• Dr. Charlotte Lilien (Senior Paediatric Research Physiotherapist, Oxford University, Oxford) and
• Dr. Robert Muni-Lofra (Consultant Physiotherapist and Honorary Clinical Senior Lecturer, Newcastle University)
• Peter Waldock (Specialist Neuromuscular Physiotherapist, Newcastle University, Newcastle-upon-Tyne)

Pete Waldock, one of the leads of our Exercise Working Group, has shared preliminary findings from a survey exploring the barriers to exercise experienced by people living with SMA.

Understanding these barriers, alongside the factors that support physical activity, is important in developing practical, evidence-informed exercise guidance that reflects the needs and experiences of the SMA community.

You can read Pete’s article here: Preliminary Results from the Barriers to Exercise Survey

This working group comprises:

Professor Giovanni Baranello (Chair), Consultant Paediatric Neurologist, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Caroline Batke, Clinical Lead for Orthotics, Alder Hey Children’s NHS Foundation Trust, Liverpool.
Dr. Channa Hewamedduma, Consultant Neurologist, Sheffield Teaching Hospitals Foundation Trust, Sheffield.
Dr. Iain Horrocks, Consultant Paediatric Neurologist, Royal Hospital for Children, Glasgow.
Michail Kokkinakis, Honorary Senior Clinical Lecturer, King’s College London and Consultant Orthopaedic Surgeon, Evelina London Children’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust, London.
Claire`Murnaghan, Consultant Paediatric Orthopaedic Surgeon and Honorary Clinical Senior Lecturer, Royal Hospital for Children, NHS Greater Glasgow and Clyde, Glasgow.
Fabian Norman-Taylor, Consultant Paediatric Orthopaedic Surgeon, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Dr. Emer O’Reilly, Clinical Research Physiotherapist, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Lyndsey Pallant, Clinical Lead Physiotherapist at Leeds Teaching Hospitals NHS Trust, Leeds.
Rosanna Rabb, Paediatric Physiotherapist at Birmingham Children’s Hospital NHS Foundation Trust, Birmingham.
Jennie Sheehan, Clinical Specialist Paediatric Physiotherapist, Evelina London Children’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust, London.
Dr. Maria Vanegas, Consultant Neurologist, Evelina London Children’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust, London.

PATIENT ADVOCATES

Ally Allen, patient perspective, mother of a teenage boy living with SMA, Midlands.
Claire Holdcroft, Community Support Practitioner, SMA UK, Midlands.

This working group is co-led by:

• Professor Chiara Marini-Bettolo (Consultant Neurologist, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK) and
• Dr. Channa Hewamedduma (Consultant Neurologist, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK)
• Pamela Appleton (Neuromuscular Care Advisor and Occupational Therapist, St. George’s University Hospitals NHS Foundation Trust, London)
• Dr. Tina Duong (Physiotherapist, Stanford University School of Medicine, California, USA)
• Dr. Maria Farrugia (Consultant Neurologist, NHS Greater Glasgow and Clyde, Glasgow)
• Dr. Clare Galtrey (Consultant Neurologist, St. George’s University Hospitals NHS Foundation Trust, London)
• Professor Charlotte Handberg (Registered Nurse, Public Health Professional and Researcher, Aarhus University, Aarhus, Denmark)
• Dr. Altaf Mangera (Consultant Urologist, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK)
• Dr. Cristina Martos Lozano (Consultant Paediatrician, Leeds Teaching Hospitals NHS Trust, Leeds)
• Dr. Mariacristina Scoto (Consultant Paediatric Neurologist, UCL Great Ormond Street Institute of Child Health, London)
• Dr. Jivraj Shehnaaz (Consultant Obstetrician and Gynaecologist, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK)
• Dr. Alison Skippen (Paediatric Neurology Consultant, Oxford University Hospitals NHS Foundation Trust)
• Mr. Jonathan Skull (Consultant in Reproductive Medicine and Surgery, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK)
• Professor Tracey Willis (Consultant Paediatric Neurologist, The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust and Chester University)

The Respiratory Working Group has reached a major milestone with the completion of the guidance on Respiratory Care in SMA.

Developed through a national multidisciplinary collaboration involving clinicians, allied health professionals, patient representatives and partner organisations, the guidance represents the first comprehensive UK consensus recommendations for respiratory care across the lifespan for people living with SMA.

The guidance has been endorsed by the British Thoracic Society (BTS) and has now been submitted to the journal Thorax for publication, where it is undergoing peer review. In parallel, it has entered the NICE guidance curation process, with the aim of increasing its accessibility and supporting consistent, evidence-based respiratory care across the UK.

Alongside the professional guidance, the Working Group is developing patient and family resources to support implementation of the recommendations in clinical practice.

We would like to thank all members of the Working Group and our partner organisations for their expertise, commitment and collaboration in delivering this important milestone for the SMA community.

The respiratory working group comprised:

Dr. Anne-Marie Childs (Chair), Paediatric Neurology Consultant, Leeds Teaching Hospitals NHS Trust, Leeds, UK
Jennifer Carter, Specialist Respiratory Physiotherapist, Leeds Teaching Hospitals NHS Trust, Leeds, UK
Dr. Elaine Chan, Paediatric Respiratory Consultant, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Lisa Edel, Senior Specialist Respiratory Neuromuscular Physiotherapist, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Dr. Christopher Edwards, Paediatric Respiratory Medicine Consultant, Leeds Teaching Hospitals NHS Trust, Leeds, UK
Dr. Marjorie Illingworth, Paediatric Neurology Consultant, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Dr. Ben Messer, Consultant in long-term ventilation and Intensive care Medicine, The Royal Victoria Infirmary, Newcastle upon Tyne, UK.
Dr. Patrick Murphy, Consultant respiratory physician, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
Tracey Procter, Neuromuscular Nurse for Complex Care, Staffordshire Children’s Hospital, Stoke-on-Trent, UK
Dr. Martin Samuels, Consultant Respiratory Paediatrician, Staffordshire Children’s Hospital, Stoke-on-Trent and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

PATIENT ADVOCATES

Portia Thorman, mother to a 6 year old boy living with SMA Type 1.

The Spine Working Group comprises:

Dr. Robert Muni-Lofra (Chair), Consultant Physiotherapist, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.
Lianne Abbott, Highly Specialised Neuromuscular Physiotherapist, The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital NHS, London, UK
Mr. Andrew Bowey, Consultant Orthopaedic Surgeon, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.
Sheryl Chatfield, Clinical Specialist Neuromuscular Physiotherapist, St. George’s University Hospitals NHS Foundation Trust, London, UK.
Nicholas Emery, Neuromuscular Clinical Specialist Physiotherapist, The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, UK.
Sarah Gregson, Highly Specialist Paediatric Physiotherapist, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK.
Steven Hewitt, Scoliosis Clinical Specialist Orthotist, Sheffield Children’s NHS Foundation Trust
Emma Manchester, NMD Adult Physiotherapist, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.
Sunitha Narayan, Neuromuscular Coordinator and Specialist Physiotherapist, University Hospital Southampton NHS trust, Southampton, UK.
Katie Nevin, Neuromuscular Clinical Specialist Physiotherapist, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.
Dr. Emer O’Reilly, Clinical Research Physiotherapist, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Mr. Simon Roberts, Consultant Orthopaedic Surgeon, Scottish National Spine Deformity Centre, Royal Hospital for Children and Young People, Edinburgh, UK.
Dr. Mariacristina Scoto, Consultant Paediatric Neurologist, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Jennie Sheehan, Clinical Specialist Paediatric Physiotherapist, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK.
Mr. Athanasios Tsirikos, Consultant Orthopaedic Surgeon, Scottish National Spine Deformity Centre, Royal Hospital for Children and Young People, Edinburgh, UK.

PATIENT ADVOCATES

Ally Allen, Support Grant Officer at SMA UK and patient representative with a teenage son living with SMA.
Molly Everitt, law Master’s student at Liverpool University and patient representative living with SMA, Liverpool, UK.
Portia Thorman, Head of Advocacy at SMA UK, patient representative and mother to a young boy living with SMA.

Our Transition Working Group comprises:

Professor Chiara Marini-Bettolo (Chair), Consultant Neurologist, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.
Fran Allen, Neuromuscular Care Advisor, Sheffield Children’s NHS Trust, Sheffield, UK.
Lisa Cutsey, Neuromuscular transition nurse specialist, Leeds Teaching Hospitals NHS Trust
Emma Manchester, NMD Adult Physiotherapist, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.
Olivia Martineau, Neuromuscular Physiotherapist, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Dr. Tara Reeves, Consultant Paediatrician, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK
Andy Rose, Physiotherapist & Specialist Neuromuscular Care Advisor, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Victoria Selby, Neuromuscular Physiotherapist, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Natalie Smith, Neuromuscular Clinical Nurse Specialist, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Rachel Thomas, Physiotherapist, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Professor Tracey Willis, Paediatric Neurologist, The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Oswestry, UK.
Denise Wooding, Specialist Occupational Therapist, Alder Hey Children’s Hospital, Liverpool, UK.

PATIENT ADVOCATES

Becci Howell,  Community Support Practitioner at SMA UK and patient representative with a brother who lives with SMA, Newport, Wales, UK.
Michelle Phillips, Head of Support at SMA UK and patient representative, Shipston-on-Stour, UK.