Neuromuscular Disorders

Our first multidisciplinary Neuromuscular Clinic was set up more than 20 years ago to provide care for children with disorders of nerves and muscles, and related conditions.

Today, the Neuromuscular Service provides care and support to children from birth through to transition to adult services, around the age of 16 -19 years. The most prevalent conditions we see in our service are:

• Dystrophinopathies (Duchenne Muscular Dystrophy and Becker Muscular Dystrophy)
• Charcot-Marie-Tooth Neuropathy (Hereditary Sensory and Motor Neuropathy)
• Myotonic dystrophies
• Spinal Muscular Atrophy (SMA)
• Other neuropathies
• Other Muscular Dystrophies (including Congenital)
• Myasthenia

We cover the city of Sheffield, South Yorkshire, North Derbyshire, North Lincolnshire and out to the coast including Grimsby and Boston areas.

In 2023 we were awarded the Neuromuscular Centre of Excellence with Research by Muscular Dystrophy UK (MDUK), following a robust application process.  This award will last for three years, when applications will be required once more. The award gives assurances that we continue to provide and offer the best possible standards of care for children and their families who are part of our Neuromuscular Service.

Expert care

Our team comprises of two Neuromuscular Paediatric Consultant Neurologists, three Neuromuscular Physiotherapists, two Neuromuscular Care Advisers, an Occupational Therapist, two Advanced Nurse Practitioners, and a Clinical Nurse Specialist, a Clinical Psychologist and administrative support. Patients who have received Zolgensma Gene therapy also have specialist input from a dedicated paediatric Speech and Language Therapist.

Our Consultant Neurologists will see your child prior to diagnosis and when a neurological condition is confirmed. Your child will attend periodic neuromuscular outpatient clinic appointments for review and management of their neuromuscular condition. Our Advanced Nurse Practitioners work closely with the consultants, prescribing medicines and liaising with other medical specialities. Our Speech and Language Therapist and Psychologist take referrals directly from our Neuromuscular Consultants. Our specialist therapy team can offer advice and support at diagnosis and thereafter and act as a link between clinic appointments. The types of advice and support vary according to individual needs and can involve:

• Specialist therapy assessment appointments in preparation for attendance at consultant clinics
• Providing information about specific neuromuscular conditions
• Advice and assessment around mobility, equipment and adapted housing
• Advice and support around benefits
• Liaison and support with education and school

Advice can be given face to face, via telephone, email or letter, during home visits or at clinic appointments.

The Neuromuscular Service has close liaison with the Respiratory team (including ventilatory support), Spinal Surgical team, Cardiology team, Orthopaedics, Endocrine and Specialised Metabolic Bone team. We have access to on-site specialised diagnostics services for neuromuscular conditions such as neuroradiology (including muscle imaging), neurophysiology, genetics, biochemical analysis, muscle biopsy and a gait laboratory. We work closely with Clinical Genetics, Orthotics, and Palliative Care.  We run regular combined clinics at Sheffield Children’s with the respiratory and spinal surgeons. In 2022 we started an M.O.T. clinic for children with neuromuscular difficulties and complex needs, who require multiple specialist input. This clinic provides access to four medical specialities (neuromuscular, respiratory, cardiology and endocrine/metabolic bone). It reduces the number of hospital outpatient appointments visits with a ‘one-stop’ clinic at Sheffield Children’s. We also plan to establish specialist neuropathy clinics together with Orthopaedics utilising our gait laboratory to personalise therapy.

Together with adult neuromuscular service colleagues, we hold regular transition clinics for youngsters who are moving from Sheffield Children’s into Sheffield Teaching Hospitals Adult Healthcare.

We aim to offer a seamless move for all our youngsters from paediatric to adult healthcare services.

New Therapies

Since 2016 we have formulated a robust intrathecal Nusinersen programme for children diagnosed with Type 1, Type 2 and Type 3 Spinal Muscular Atrophy (SMA).  In May 2021 NHS England appointed Sheffield Children’s a Zolgensma Gene Therapy Infusion Centre for patients with Type 1 SMA. We are one of only four NHS providers in England given this status. In January 2022, Risdiplam (another treatment therapy for SMA Types 1, 2 and 3) became available through the NHS.

Innovative Care and Research

We are currently engaged in several international and national research programmes for children with neuromuscular conditions.

We actively participate in the North Star Audit (national collaboration) for children and young people with Duchenne Muscular Dystrophy and all approved therapies available to these children.

Sheffield Children’s Hospital is part of the SMA Network and we participate in SMAREACH – a national research platform for children and young people with this condition. We are a study site for BIIB115 study for SMA, and also HYST Zolgensma study. We continue to develop other clinical research studies to help patients and families with SMA in conjunction with the SMA network and charities, including bone health, adrenal health and spine management in SMA.

We have participated in the national ‘DORESS’ study (Duchenne Muscular Dystrophy Outcomes in Relation to Ethnicity and Socioeconomic Status), contributing local data to a national study investigating the impact of ethnicity and socioeconomic status upon clinical outcomes in DMD.

We are currently engaged in several international and national research programmes for children with neuromuscular conditions.

Research continues to be a focal point of interest in our service. We continue to explore research topics which are pertinent to our neuromuscular children and youngsters, and we actively seek participation in research.

We work with a wide range of teams – health, social care and voluntary organisations to holistically care for a child and young person who has a neuromuscular condition. We continue to work with pharmaceutical partners and researchers and most importantly with families to help improve the care and management for our children with neuromuscular conditions.