Clinical Care & Diagnostics
The John Walton Muscular Dystrophy Research Centre (JWMDRC) is one of the four National Highly Specialised Services (HSS) for Rare Neuromuscular Diseases commissioned by NHS England. The centre is commissioned to provide expert clinical and diagnostic advice on Limb-girdle muscular dystrophies (LGMD). The HSS for LGMD is led by Dr Chiara Marini-Bettolo.
The team also provides an NHS regional neuromuscular service across the North of England and runs multidisciplinary paediatric and adult clinics for over 1500 NHS patients and families per year with a range of neuromuscular diseases throughout the North of England.
The main base for the muscle service is at the International Centre for Life where clinics for the HSS LGMD service and adult follow up patients are held. The children’s clinics are held at the Great North Children’s Hospital. Both sites are situated in Newcastle Upon Tyne. Clinics are also held at a range of other locations (see map) throughout the region, in conjunction with local physiotherapists and other local staff. All our clinics and consultations are multidisciplinary and attended by members of the team, which includes our specialist neuromuscular physiotherapists, specialist neuromuscular nurses, physiotherapy technical instructor and specialist neuromuscular care advisor as well as our medical doctors. Some of our clinics are dedicated to specific diseases, like myotonic dystrophy, congenital myasthenic syndrome, spinal muscular atrophy and Duchenne muscular dystrophy. A dedicate Orthotics clinic is led by our Physiotherapy team and held at Peacocks Orthotics in Newcastle.
Our clinics have collaborative links with colleagues in cardiology, respiratory, endocrinology, orthopaedics, gastroenterology, palliative care and symptom management team, neuropathology and other specialties. We welcome visiting doctors and other staff for specialised training in neuromuscular disease diagnosis and management.
The clinical team contributes significantly to the development of internationally recognised care recommendations and diagnostic guidelines which impart improved care and life expectancy for patients with muscular dystrophy. Our strength in clinic is based on the multidisciplinary aspect of clinical care for muscular dystrophy ensuring holistic care and access to research is provided to all our patients.
Attending clinics & the Patient Pathway
During clinical visits, you will meet many neuromuscular experts from different healthcare backgrounds as part of your multidisciplinary assessments and consultation. The patient pathway below has been created to help you understand what you might expect, and your journey will be similar to the one below.
If you have any questions or concerns about the process, just ask a member of the team and we will do our very best to provide you with an answer
The comprehensive multidisciplinary assessment is generally structured as follows, however some of the steps may not apply to you. A joint consultation with expert neuromuscular physiotherapist and consultant or medical doctor:
- A thorough muscle assessment by one of the specialist neuromuscular physiotherapists will be carried our and will include
- Muscle strength assessment (Manual muscle test and other functional scales) - The assessment may look at your muscle strength, functional ability, i.e. what you are able to do for yourself such as getting into standing or bringing a cup to your mouth
- Respiratory assessment with Forced Vital Capacity (FVC) measurement in sitting and lying positions
- Neurological examination
- Genetic counselling (We may also ask you whether other family members would be willing to give a blood sample to help confirm any suspected diagnosis)
At the end of the consultation, you will receive advice about:
- Diagnosis, prognosis and genetic counselling if a diagnosis is available
- Next diagnostic steps (DNA analysis, RNA analysis, muscle or skin biopsy, muscle MRI, other blood tests or investigations)
- Advice about available exercise, postural management, supportive equipment and orthotic needs, wheelchair specifications and access to local services
- Advice about social care, independent living, benefits etc by a regional care advisor
- A summary of your clinical consultation is issued after each clinic appointment and sent to the patient as well as other professionals involved and relevant to your ongoing care
- A John Walton Muscular Dystrophy Research Centre contact sheet is given to the patient with relevant names, email addresses and phone numbers
A diagnosis is usually disclosed in clinic face to face or via video consultation or through a letter as appropriate. Detailed information is offered to the referring clinician regarding genetic counselling, complications, prognosis, treatment, long term management and possible access to research.
Ongoing follow up is offered to all local patients every 6-12 months or depending on need if required and in particular to those patients for whom a genetic diagnosis has not been achieved. These patients will be offered genetic testing of novel genes. Out of area patients will be discharged back to the care of their local clinician but diagnostic investigations may continue, and you will be kept informed of any results.
Meet the team
Medical Doctors & Consultants
At your clinic appointment you will meet one of our medical doctors or consultants. Our consultants, Dr C. Marini-Bettolo, Dr E. Harris, Dr M. Guglieri, Prof V. Straub and Prof J. Diaz Manera, are specialised in inherited neuromuscular diseases across all ages.
We have a number of Trust doctors and doctors in training or clinical fellows in the team who you may meet at your appointment. These are Dr M Elseed, Dr U. Moore, Dr C. Trainor, Dr M Malinova, Dr C. Bolano, Dr M. Keogh. All doctors have access to a senior member of staff to discuss any concerns, next steps and management. Whilst you may find that meeting a different doctor may lack continuity, it allows building knowledge in the new generation of doctors but also reviewing the clinical picture with a fresh pair of eyes.
Specialist Neuromuscular Physiotherapists
At your clinic appointment you will meet one of our specialist neuromuscular physiotherapists who are specifically trained to assess neuromuscular condition and provide advice on their management. The physiotherapy team is led by Robert Muni Lofra, Consultant Neuromuscular Physiotherapist. We have a number of neuromuscular physiotherapists and physiotherapy technical instructor who you may meet at your appointment. These are: M. McCallum, A. Mayhew, M. James, D. Moat, J. Michelle-Sodhi, M. Richardson, K. Wong, D. Michura.
All physiotherapists have access to a senior member of staff to discuss any concerns, next steps, and management. Their role is to help you better manage the limitations of your muscle disease and minimize its impact on your daily life through direct contact with you and working with your local team.
Specialist Neuromuscular Care Advisor
Our Specialist Neuromuscular Care Advisor, Joe Mason, supports people of all ages living with neuromuscular conditions across the Northern region.
Specialist Care Advisors come from a Health and Social care professional background. Joe is an Allied Health Professional Occupational Therapist with over thirty years’ experience.
Patients and families can meet with Joe when they attend clinic. He is also available for telephone consultations and is willing to undertake home visits where it is appropriate to do so.
In addition, Joe supports local community services and teams across the region. This includes providing professional reports and letters of support, attending multi-disciplinary team meetings, supporting continuing healthcare assessments and any vocational needs which are raised through school, college and university and within an individual’s employment organisation.
Joe can also offer advisory and signposting services for essential disability benefit assessments such as Personal Independence Payment and Disabled Persons Blue Badge scheme.
Joe can become involved in supporting people during key stages of their life. This may include planning for major housing adaptations and equipment resources, complex health and community care needs, transition from child to adult medical care, independent living skills and education health and care plans and work based assessments.
An important aspect of the role is associated with information and training to other professional partner organisations. Joe raises awareness of neuromuscular conditions by supporting other professionals such as therapists, teachers, employers and care agencies.
Joe is most willing to discuss any aspect of an individual’s health and well-being. It is vital that the physical, psychological and social needs are all addressed throughout the life of a person living with a potentially life limiting or weakening condition.
Specialist Neuromuscular Nurses
One of our specialist neuromuscular nurses will meet you in clinic.
Our specialist nurses work closely with patients, families, other agencies and medical staff involved in care. This involves many responsibilities including being present and offering support at a new diagnosis consultation, undertaking home visits to support a family, supporting patients in school and work environments, advising and facilitating genetic testing and counselling, including reproductive advice, taking blood and other samples and, most importantly, providing ongoing support to patients and their families for the rest of their lives.
Our nurses may also approach you to discuss research projects through donation of a blood sample for Biobank to help with research. This is absolutely voluntary, and you will have the opportunity to discuss this in detail when in clinic.
Clinic locations
We hold regular clinics in 12 different locations across the North East, Cumbria, West Cumbria and Teeside.
Seaham, County Durham
￭ Seaham Primary Care CentreStockton-on-Tees
￭ University Hospital of North TeesSouth Tyneside
￭ TBCSunderland
￭ TBCWorkington
￭ TBC