Please see our admission criteria for information about the diagnoses treated by the Dubowitz Neuromuscular Centre at Great Ormond Street Hospital.
How to refer to a patient
For an outpatient appointment
As a tertiary care hospital, all children who attend Great Ormond Street Hospital must be referred via a local hospital consultant, community paediatrician or, in exceptional circumstances, via a GP.
Results of previous investigations and a detailed clinical assessment including results of previous investigations should accompany the referral.
Inclusion of the plasma CK level is key in directing additional investigations and determining the urgency of appointments.
Referrals of children with known or suspected congenital muscular dystrophy or myopathy should, in addition, be accompanied by a completed NCG form, as for the NCG biopsy and genetics service.
We also request images from brain, spine or muscle MRI (even if previously reported as normal) are forwarded for review via the GOSH image exchange portal.
To contact us to make a referral please email email@example.com, fax or post.
All routine referrals sent by post should be to the following address:
Dr Adnan Manzur, Dr Stephanie Robb or Dr Ros Quinlivan
Level 10, Main Nurses Home
Great Ormond Street Hospital
Great Ormond Street
Fax: 020 7829 8647
For urgent referrals contact the GOSH switchboard on 020 7405 9200 and request the neuromuscular registrar or the neuromuscular clinical fellow.
How to get advice
For patients known to GOSH
For clinical issues, please contact Ruth Barratt, Clinical Nurse Specialist, on Ruth.Barratt@gosh.nhs.uk
(extension 0517, bleep 2123), the neuromuscular fellow (bleep 2012) or the clinical secretaries (extension 0632, extension 5849 and extension 0338).
For urgent queries contact the neuromuscular fellow on bleep 2012.
For patients not known to GOSH
For NCG referrals, see contact details on NCG form or contact: Dr Stephanie Robb (secretary Siobhan Crawford Lane, 020 7405 9200 extension 0632). For urgent referrals contact the neuromuscular fellow on bleep 2012.
For urgent clinical queries or referrals out of office hours please contact the on-call neurology SpR via switchboard on 020 7405 9200.
Key staff members
Muscle Biopsy Service staff
Services and facilities available
The Dubowitz Neuromuscular Centre provides a comprensive multidisciplinary assessment, diagnostic and management service for children with neuromuscular disorders.
Children are usually seen in the outpatient setting and joint appointments are arranged to include detailed physiotherapy, speech and language therapy, dietetic and medical assessments.
In addition, we have joint specialist clinics with orthopaedic and spinal surgeons, respiratory and peripheral nerve specialists. Children may also be referred to other specialist services at GOSH such as cardiology, gastroenterology and paediatric surgery.
For inpatients, there are the intensive care facilities of the neonatal and paediatric intensive care units and the paediatric respiratory and neurology wards.
Specialist investigations, such as brain, spine and muscle MRI and muscle biopsy are carried out with all of the facilities and specialist anaesthetic expertise of this world class paediatric teaching hospital.
Transition of young people to the adult services is facilitated by the joint adolescent clinic, in association with adult neurology specialists from The National Hospital for Neurology, Queen Square.
Families who need to travel long distances for the clinic may be accommodated overnight (subject to sufficient notice and availability) in the patient hotel.
The DNC provides clinical assessment, diagnostic services and advice on treatment and rehabilitation. The DNC is also involved in clinical trials, basic research focusing on understanding the cause of neuromuscular diseases in childhood and identifying novel therapeutic intervention.
Excellence in this field is demonstrated not only by the National Commissioning Group (NCG) status achieved in 2000 to provide a national specialist diagnostic and assessment service for Congenital Muscular Dystrophies and Congenital Myopathies, but also by its designation as a muscle centre by the Muscular Dystrophy Campaign.
The DNC is part of the UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust and is a member of the recently created MRC Neuromuscular Translational Research Centre at UCL.
In addition to the service provided for all paediatric neuromuscular disorders, the DNC is involved with clinical, molecular and cell biological research mostly focused on the genetic basis of Congenital Muscular dystrophies; on muscle stem cell and on experimental therapies for Duchenne Muscular dystrophy.
The Muscle biopsy service is located close by at the Institute of Neurology at Queen Square. A dedicated team, with expertise in paediatric muscle conditions works closely with the adult muscle and nerve pathology service.
Muscle Biopsy Service (incorporating the NCG Referral Centre)
The Muscle biopsy service is part of the Dubowitz Neuromuscular Centre (DNC) and its primary role is in providing a specialist diagnostic and assessment service for Congenital muscular dystrophies and Congenital myopathies.
Its service excellence in this field is recognised with National Commissioning Group (NCG) status it achieved in 2000.
This is in addition to the service it provided for all paediatric neuromuscular disorders for over 30 years.
Studies on muscle, skin and chorionic villus (CV) samples using a variety of morphological methods are carried out to identify abnormalities which aid diagnosis of neuromuscular disorders. The range of procedures utilised include histology, histochemistry, immunohistochemistry, electron microscopy and fibroblast cell culture.
Biopsy service analysis results are reported within different time frames, determined by clinical need. These results are first discussed with the DNC clinicians in conjunction with clinical information prior to forwarding on to referring clinicians. Please see our average turnaround times.
Urgent samples (prenatal diagnosis and possible inflammatory conditions) are prioritised, and reported as a matter of urgency.
The service provided under the NCG referral scheme is currently only a free service to patients living in England and Scotland. We are able to accept referrals from outside England and Scotland, but charges will have to be made (please enquire before sending a sample).
All referrals to the NCG biopsy service need to be arranged in advance and samples accompanied by clinical details including a completed NSCT Referral Form.