Congenital muscular dystrophy


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Relevant diseases:

  • Congenital muscular dystrophy

Inclusion criteria:

  • Muscle weakness with onset in infancy or early childhood AND
  • elevated creatine kinases or muscle biopsy with dystrophic changes
  • Availability of CK and muscle biopsy results
  • Dystrophic changes on muscle biopsy

 Exclusion criteria:

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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