For patients & families

Which patients and conditions do we see in the muscle service?

We see patients from across the UK as part of the Highly Specialised Service for rare neuromuscular diseases who are either:

Suspected of having a neuromuscular disease, particularly when their local neurology team have been unable to make a diagnosis and would like our team’s input

Diagnosed with of one of the rare genetic muscle diseases that our centre has expertise in, such as limb girdle muscular dystrophies, myofibrillar myopathies or distal myopathies

We see patients from the North East and Cumbria with a wide range of genetic neuromuscular diseases such as Myotonic dystrophy, Duchenne or Becker muscular dystrophy, Facioscapulohumeral muscular dystrophy (FSHD), Spinal Muscular Atrophy, congenital myopathies, congenital muscular dystrophies, congenital myasthenic syndromes, myotonia congenita, as well as limb girdle muscular dystrophies, myofibrillar myopathies or distal myopathies

We also see patients with inherited neuropathies (Charcot Marie Tooth syndrome), typically to provide input in making the diagnosis and providing specialist physiotherapy input in complex cases, although many patients with these conditions can also be appropriately followed up by local neurology or paediatric teams

Where will my clinic appointment be held?

What happens at a clinic appointment?

Our clinics are “multidisciplinary”, which means that different members of the team may be present, including specialist neuromuscular physiotherapists, specialist neuromuscular nurses, physiotherapy technical instructor and specialist neuromuscular care advisor as well as medical doctors.

Like other medical appointments our appointments include asking questions to understand more about your condition, followed by a detailed physical examination by the doctor and physiotherapist together.

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, so you may be asked if you agree to having a visiting doctor for example in your appointment – you are always welcome to say no if that is your preference.

We aim to provide opportunities for patients and families to be included in research and you may be asked if you would like to be involved in a particular study, but there is no requirement to agree to research and this does not affect the clinical care you receive.

Who will I meet at the appointment?

You will meet one of our medical doctors or consultants. Our consultants, Prof Chiara Marini-Bettolo, Prof Michela Guglieri, Prof Volker Straub, Prof Jordi Diaz Manera, Professor Giogio Tasca, Dr Maha El Seed and Dr Lizzie Harris, are specialised in inherited neuromuscular diseases but each with specific areas of expertise and interest.

You may meet our Consultant Clinical Neurophysiologist, Dr Karen Suetterlin, who performs nerve conduction studies, electromyography (EMG), and/or ultrasound to assess how well your nerves and muscles are working and help identify the cause of your symptoms. Nerve conduction studies and EMG may cause mild temporary discomfort, while ultrasound is painless and uses sound waves to create images of nerves and muscles.

You will meet a specialist neuromuscular physiotherapist who will carry out a number of assessments to look at your mobility, functional abilities (such as getting out of a chair and up from the floor), arm function, and any joint stiffness. You will also be asked to complete a breathing test to assess your respiratory function.

These assessments help us to monitor your neuromuscular condition over time and provide advice on how best to manage it. We can also signpost or refer you to other services, such as orthotics, community physiotherapy or occupational therapy, to provide further assessment and support where needed.

If appropriate, we may discuss opportunities to contribute to research projects or data collection studies. This will depend on your eligibility, as well as your interest in taking part in research.

You may meet our Regional Care Advisor, who provides a central point of contact and acts as a bridge between patients, families and the hospital multidisciplinary team. They offer ongoing support between specialist hospital appointments, helping you navigate the wider health and care system.

The Care Advisor can provide guidance on social care, welfare benefits and independent living, as well as help you access appropriate services and support. They can also advocate for your needs, helping to ensure your voice is heard and that care is coordinated across different services.

You may meet our specialist neuromuscular nurse.

We have a number of Trust doctors and doctors in training or clinical fellows in the team who you may meet at your appointment. Many of these doctors are on their way to becoming neuromuscular specialists in their own right. All doctors have access to a senior member of staff to discuss any concerns, next steps and management, and although you may find yourself meeting different team members at different appointments be assured that there is regular discussion of diagnostic investigations and management concerns amongst the whole team.

How can I get involved in research?

Clinic locations

We hold regular clinics in 9 different locations across the North East, Cumbria, West Cumbria and Teeside.

Carlisle

￭ Eden Valley Hospice

Hartlepool

￭ University Hospital of Hartlepool

Middlesbrough

￭ James Cook University Hospital
￭ Low Grange Health Care Centre

Newcastle Upon Tyne

￭ Centre for Life
￭ Freeman Hospital
￭ Royal Victoria Infirmary

Seaham, County Durham

￭ Seaham Primary Care Centre

Stockton-on-Tees

￭ University Hospital of North Tees

We'd love to hear from you!

provide feedback on our service

If you have been seen by the muscle service in Newcastle we would love to get your feedback about our service – what was good and how we can improve. Please follow this link:

Patient forum: We are keen to involve patients in contributing to decisions about how are service is run, and if you would be willing to spare some time to help with this by joining our Patient Forum, please contact us here:

Frequently asked questions

Do you see patients from overseas or privately?

Unfortunately we do not currently have capacity to offer appointments to patients who live overseas or on a private basis. This situation may change in the future so please check again on this website in the future.

You may find the following websites and organisations helpful:

How can I be seen by the clinical team?

We usually need a referral from another health professional, which could be your neurologist, paediatrician or GP

I live outside of the North East and North Cumbria region and my child has Duchenne muscular dystrophy, can they have shared care in Newcastle?

It is important that your child has their care and monitoring provided by a local clinical team. Due to our teams limited capacity we are not able to offer shared care for individuals with Duchenne muscular dystrophy or some of the other muscle conditions unless they live within our region.

How can I access genetic counselling?

Please seek a referral to your local clinical genetics service, and include details of your / your family member’s diagnosis