The service provides both a ‘diagnostic workup’ and ‘clinical management’ for both adults and children. As part of the diagnostic workup patients may have blood tests, including DNA tests 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).
As part of the clinical management patients will have regular assessments of their muscle function and strength by a physiotherapist, assessments of respiratory and cardiac health, diet and nutrition and bone health as well as schooling (where appropriate) and job opportunities, and social and wellbeing. There are also facilities for Orthotics and gait analysis/serial casting.
How to access the service
Referrals to the ‘muscle service’ and the physiotherapists can be made via a patient’s GP or hospital doctor. Existing patients can refer themselves to the neuromuscular care advisors.
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.
Doctor Tracey Willis
Doctor Tracey Willis is the lead consultant neurologist; her speciality research interests include MRI in Neuromuscular Conditions and Congenital Myasthenic Syndrome. She was involved in designing and setting up the Global FKRP registry for limb girdle muscular dystrophy 2I, congenital muscular dystrophy and other FKRP related disorders.
Doctor Deborah Short
Doctor Deborah Short is a Rehabilitation Specialist who runs muscle clinics at the Hospital, she specialises in Spinal Cord Injuries and Rehabilitation Medicine. Doctor Short also holds clinical interests in Acute and long term care of spinal cord injuries and spinal paralysis as well as Rehabilitation medicine interest in muscle disorders.
Mrs Carolyn Evans
Regional Care Advisor
Carolyn has over 30 years specialist neuromuscular experience and over 40 years in healthcare, working with families at all levels from supporting home adaptations, finance support, emotional support, and with a specialist nurse orthopaedic background and training, is particularly skilled looking at orthopaedic needs. Her special interest is children's neuromuscular disorders. Get in touch with Carolyn by E: Carolyn.evans@RJAH.NHS.UK or T: 01691 404333.
Kathryn has over 25 years healthcare experience in a wide area of fields including being a Genetic Counsellor for nearly 10 years, Counselling and a personal interest in complimentary therapies. She has worked with a wide variety of community, occupational and acute healthcare services working with individuals and families in home, at work, in acute wards and clinic settings. Kath's special interest is adult conditions and transition periods. Get in touch with Kathryn by E: Kathryn.titchen@RJAH.NHS.UK or T: 01691 404333.
Dr Mark Rogers
Consultant Clinical Geneticist
Mark Rogers is a Consultant Adult Clinical Geneticist at The Robert Jones and Agnes Hunt Orthopaedic Hospital. Doctor Rogers specailises in Myotonic conditions and holds clinics at the hospital twice a month seeing a wide range of patients with neuromuscular conditions.
Dr Richa Kulresthra
Consultant Paediatric Neurodisability
Richa Kulresthra is a Consultant Paediatric Neurodisability at The Robert Jones and Agnes Hunt Orthopaedic Hospital. Dr Kulresthra specialises in Paediatric Development (Neurology) and her research interests are inherited neuromuscular disorders, paediatric epilepsy, neurology and spinal cord injury.
Other key people in the team include:
- Mr Nigel Kiely, Consultant Adult And Paediatric Surgeon
- Doctor Yvette Easthope-Mowatt, Specialist Clinical Psychologist
- Doctor Simon Hill, Consultant Adult Orthopedist
- Mr Jay Trevidi, Spinal Surgeon
- Doctor Tony Twist, Dietician
- Doctor Ashish Chikermane, Paediatric Cardiologist
- Doctor Adrian Morley-Davies, Adult Cardiologist
- Doctor Martin Samuels, Consultant Paediatric Respiratory Physician
- Doctor Ajit Thomas, Adult Respiratory Consultant
- Dr Nick Duffy, Adult Respiratory Consultant
- Kate Jones, Neuromuscular Specialist Nurse
Children & Adults
Clinics are held at Royal Jones and Agnes Hunt Orthopaedic Hospital
- Neuromuscular clinic
- MDT clinics; Physio, specialist nurse/NMcare advisor, clinical psychologist.
- One adult and one children's clinic per week
- One ‘physio only’ clinic per month
- Arthrogryposis clinic; 2 per year (adults and children
- Joint orthopaedic; 1 per month – adults and children.
- Joint genetics clinic; 1 per quarter
- Spinal clinic; attend if NMD patients on list
- Duchene Muscular Dystrophy
- Spinal Muscular Atrophy (SMA)
- Charcot Marie Tooth disease (CMT)