Oxford Congenital Myasthenia Service referrals
The Oxford Congenital Myasthenia Service is a national referral centre for children and adults in whom a Congenital Myasthenic Syndrome (CMS) is suspected.
These clinically diverse inherited disorders can arise from mutations in a number of different genes (see below).
The service is funded by the National Commissioning Group (NCG, formerly the National Specialist Commissioning Advisory Group), as part of the Diagnostic and Advisory Service for Rare Neuromuscular Disorders.
Oxford University Hospitals' Neuromuscular Services have been recognised as a European Rare Neuromuscular Centre.
Diagnosis and management advice
These depend on a combined approach incorporating:
- clinical assessment
- specialised electromyography
- analysis of DNA
- analysis of serum antibodies (anti-acetylcholine receptor and anti-MUSK)
- outpatient or inpatient evaluation of specific therapy.
Gene screening
Currently we are able to screen for mutations in the following genes:
- CHRNA, CHRNB, CHRND and CHRNE - the genes encoding the muscle acetylcholine receptor (AChR)
- RAPSN - responsible for clustering AChR at the neuromuscular junction (NMJ)
- COLQ - which anchors acetlycholinesterase at the NMJ
- CHAT - choline acetlytransferase involved in the synthesis of acetylcholine
- DOK7 - involved in maintaining NMJ structure
- CHRNG - the fetal AChR gamma subunit in which mutations can cause Escobar's syndrome (screening is on a research basis at present - but will shortly be transferred to the CPA accredited laboratory)
- MUSK - the gene for muscle specific tyrosine kinase can also be screened on a research basis.
Where novel mutations are identified we are developing an increasing repertoire of functional analyses to confirm their pathogenicity.
Owing to the heterogeneity of these disorders, and because clinical evaluation can inform the genetic screening, we recommend that all patients attend for clinical assessment whenever possible. However, we can provide genetic screening if the patient and/or their family are unable to attend the Oxford clinic, provided that adequate clinical data are included in the Pre-referral form (it can be downloaded below). If you wish to discuss the case before deciding which of the options to request, please contact either Dr Jackie Palace or Dr Sandeep Jayawant (see below).
DNA or blood samples for screening
5-10mls blood in 10 mM EDTA tube(s) should be sent to:
Mike Oldridge DPhil
Oxford Regional Genetics Laboratories
Churchill Hospital
Oxford OX3 7LE
UK
Congenital Myasthenic Syndrome (CMS) Annual Reports
The CMS service produces annual reports for NHS England.
If you would like a copy of these reports, please email: cmsgenetics@ouh.nhs.uk
Key staff
Clinical team
- Professor Jackie Palace (Consultant Neurologist)
- Dr Sithara Ramdas (Consultant Paediatric Neurologist)
Molecular genetic analysis
Professor David Beeson (Molecular Biologist)
Professor David Beeson oversees the molecular genetic analysis at the Weatherall Institute of Molecular Medicine (WIMM), within the Department of Clinical Neurology, University of Oxford. Genetic analysis for these disorders is carried out by the CPA-accredited clinical genetics laboratory at the Churchill Hospital, Oxford (Director, Dr Anneke Seller).
Genetics Laboratory Liaison
Dr Tracey Lester
Clinical Neurophysiology
Contact details
General enquiries
Professor J Palace c/o Ralitsa Mileva
CMS Service
Neuroscience Offices, Level 3
West Wing, John Radcliffe Hospital
Headington
Oxford OX3 9DU
Tel: 01865 231915
Email: cmsgenetics@ouh.nhs.uk
(Also for healthcare professionals who wish to discuss clinical cases.)
Referral form
Oxford - Referral Centre for Congenital Myasthenic Syndromes (CMS) (Word, 94 KB)
To be completed by physicians referring to our service, including for genetic analysis only.
Patient information
Congenital Myasthenia Service (pdf, 412 KB)
Pilates for people with Neuromuscular conditions - video playlist
Last reviewed:13 June 2024