Congenital myaesthenia


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 Inclusion criteria:

  • Patients at any age with fatigable weakness and fluctuating motor symptoms
  • Clinical neurophysiology revealing a neuromuscular transmission defect (repetitive nerve stimulation, or Single fibre EMG)
  • Review of patient data by CMS NHS Highly Specialised Services for Rare Diseases service

 Exclusion criteria:

  • Response to immunosuppressive treatment
  • Presence of anti- AChR or MuSK antibodies
  • Muscle biopsy indicative of mitochondrial disorder. Muscle biopsy giving clear indication of dystrophy or other muscle disorder

Prior genetic testing guidance 

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement 

These requirements will be kept under continual review during the main programme and may be subject to change

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