Congenital myopathy


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Relevant diseases:

  • Congenital myopathy

Inclusion criteria:

  • Muscle weakness
  • one or more of the following histopathological features
    • type 1 predominance or uniformity
    • congenital fibre type disproportion
    • central cores
    • multi-minicores
    • nemaline rods
    • central nuclei
  • Availability of CK, muscle CT/MR imaging, muscle biopsy and neurophysiological studies

 Exclusion criteria:

  • Absence of muscle weakness
  • CK more than 5x normal
  • dystrophic features on muscle biopsy

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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