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 Inclusion criteria:

  • Multiple congenital bilateral joint contractures
  • EMG/NCV completed
  • Creatinine kinase measured
  • MRI brain if developmentally delayed or otherwise clinically indicated
  • TORCH screen if developmentally delayed and less than 6 months old
  • Maternal anti-acetylcholine receptor antibodies
  • Consideration of skeletal survey to exclude skeletal dysplasia

 Exclusion criteria:

  • Isolated talipes/clubfoot
  • Oligohydramnios
  • Major structural CNS abnormalities likely to be causative of phenotype
  • Confident clinical diagnosis of amyoplasia

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.

Prior genetic testing genes 

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • If associated with other abnormalities, genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray)

Closing statement 

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

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