Oxford University Hospitals NHS Foundation Trust

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Oxford Congenital Myasthenia Service referrals

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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.

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).

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DNA or blood samples for screening

5-10mls blood in 10 mM EDTA tube(s) should be sent to:

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

Congenital Myasthenic Syndrome (CMS) Annual Reports

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Key staff

Clinical team

  • Dr Jackie Palace (Consultant Neurologist)
  • Dr Sandeep Jayawant (Consultant Paediatric Neurologist)
  • Dr Sithara Ramdas (Consultant Paediatric Neurologist)
  • Dr Manon Lee (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

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Contact details

General enquiries

  • Dr Palace c/o Birute Saul (CMS Service Co-Ordinator)
    Department of Clinical Neurology
    Level 3, West Wing
    John Radcliffe Hospital
    Oxford OX3 9DU
  • Tel: 01865 231915

Pre-referral form

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

Patient leaflet

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Slides from CMS Patient Day - April 2016

Below are the slides from the CMS Patient Day, held at the Bicester Hotel Golf and Spa on Friday 8 April 2016.

This was organised bythe Oxford Congenital Myasthenia Service, and comprised over 50 people from all over the UK.

The Patient Day was an excellent opportunity for patients and families to share their experiences and discuss solutions to problems by meeting others who have worked through challenges previously.

The presentations were prepared by the CMS team in Oxford, and invited speakers, and are directed to patients and families, in order to increase their understanding about the condition and to update them on the latest research findings.

The CMS Patient Day was specially dedicated to being active with CMS, exercise and nutrition.

Please do contact us if you need further information.

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