JWMDRC: 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?

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. 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.

You may meet our careadvisor: INSERT PREVIOUS TEXT (a lot of text!)

You may meet our specialist nurse: INSERT PREVIOUS TEXT (a lot of text!)

At your clinic 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.

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, and will become the experts of the future, but we appreciate that seeing different members of the clinical team may not be the preferred approach for some patients. 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?

For patients & families

Clinic locations

We'd love to hear from you!

Frequently asked questions

For patients & families

Clinic locations

We'd love to hear from you!

Frequently asked questions

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