Neuromuscular Service

The neuromuscular service aims to provide a full diagnostic and clinical management service for both children and adults living with a neuromuscular condition.

The team comprises of specialist neuromuscular consultant, and attended by consultants in neurology, rehabilitation, genetics and orthopaedics. Neuromuscular care advisors, neuromuscular physiotherapists and a psychologist are in attendance at the clinics.

The inherited neuromuscular conditions seen include;

  • Muscular dystrophy
  • Congenital myopathies
  • Spinal Muscular Atrophy (SMA)
  • Charcot Marie Tooth disease (CMT)
  • Myotonic Dystrophy
  • Congenital Myasthenia gravis
  • Neuropathies and mitochondrial myopathies

These specialist clinics are run weekly both for adult and children, and some clinics will run jointly with other clinical specialties, such as cardiology, genetics, dietetics and orthopaedics. This means that patients can be seen by a number of clinicians and have a number of assessments at one appointment if required.

 

How can an individual be referred to the ‘muscle service’

Referrals to the ‘muscle service’ and the physiotherapists can be made via a patient’s GP or hospital doctor. 

As part of the diagnostic workup patients may have blood tests, including DNA for genetic testing where appropriate. A patient may have neurophysiological testing (electrical testing of the nerves and muscles), muscle MRI (imaging) and a muscle biopsy (a piece of muscle taken and looked at via a microscope). These all help in the diagnostic process.

As part of the clinical management patients will have regular assessments of their muscle function and strength, respiratory and cardiac health, diet and nutrition and bone health as well as schooling (where appropriate) and job opportunities, and social and wellbeing.

Regular clinic attendance means that ongoing management of a patients neuromuscular condition can prevent problems such as acute hospital admissions for chest infections, correction of spinal curvatures at an early stage, treatment and monitoring of heart problems associated with some conditions and regular updates on clinical trials and research and opportunities, if appropriate, to take part in clinical trials.

The Team

Lead Consultant

  • Dr Tracey Willis, Consultant Paediatric Neurologist (Specialty Interest in Neuromuscular Disorders)

Specialist neuromuscular Team Clinicians:

  • Dr Richa Kulshrestha, Consultant Neurodisability (Special Interest in Neuromuscular Disorders)
  • Dr Deborah Short, Consultant in Spinal Injuries and Rehabilitation Medicine
  • Mr Nigel Kiely, Consultant Adult & Paediatric Surgeon
  • Dr Mark Rogers, Consultant Family Geneticist
  • Mr Simon Hill Consultant Orthopaedic Surgeon


Clinical Support Team:

  • Dr Yvette Easthope-Mowatt, Specialist Clinical Psychologist, Adult & Children
  • Prof. Caroline Sewry, Histopathologist
  • Mr Nick Emery, Specialist Neuromuscular Physiotherapist, Adult & Children
  • Mrs Kathryn Titchen, Family Advanced Neuromuscular Nurse Practitioner
  • Ms Kate Jones, Neuromuscular Care Advisor
  • Mrs Rachel Steel, Pathway Co-ordinator
  • Mrs Debbie Davies, Secretary
  • Mrs Nicola Jones, Secretary

Contact Us:

Rachel Steel, Pathway Co-ordinator on Tel: 01691 404486