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Oxford University Hospitals NHS Foundation Trust

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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.

European Reference Network logoOxford University Hospitals' Neuromuscular Services have been recognised as a European Rare Neuromuscular Centre.

Please find out more via the link below:

CMS Patient Day 2017

Our CMS Patient Day on 22 April 2017 at the Holiday Inn, Woodstock Road, Oxford, was an overwhelming success, attended by patients from all over the UK.

It was an opportunity for patients and their families to meet and share their experiences, as well as find solutions to problems through meeting others who have experienced similar challenges.

Presentations from members of the Oxford CMS team and invited speakers helped patients and their families to understand the condition, and informed them about recent advancements in research.

There were also opportunities to learn about adapting exercise and meet Myaware representatives.

Presentation - Congenital Myasthenia: Overview by Dr Manon Lee, CMS Clinical Training Fellow (pdf, 1.2 MB)

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:

  • Professor D Beeson
    Neurosciences Group
    John Radcliffe Hospital
    Oxford OX3 9DU

Congenital Myasthenic Syndrome (CMS) Annual Reports

Key staff

Clinical team

  • Professor Jackie Palace (Consultant Neurologist)
  • Dr Sithara Ramdas (Consultant Paediatric Neurologist)
  • Dr Pedro Rodriguez Cruz (CMS Fellow)

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 Palace c/o Marzena Hilarowicz, CMS Service Co-Ordinator

Department of Clinical Neurology
Level 3, West Wing
John Radcliffe Hospital
Oxford OX3 9DU

Tel: 01865 231915


Pre-referral form

Referral Centre for Congenital Myasthenic Syndromes pre-referral form (Word, 116 KB)

To be completed by physicians referring to our service, including for genetic analysis only.

Patient leaflet

Congenital Myasthenia Service (pdf, 412 KB)