Charcot-Marie-Tooth disease [CMT,HSMN]


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 Inclusion criteria 

  •  Unexplained peripheral neuropathy affecting motor, sensory or autonomic nerves progressing over >2 years +/- additional neurological signs.

 Exclusion criteria 

  • History of trauma
  • Known acquired metabolic, vascular, inflammatory or immunological cause
  •  History of alcohol excess
  • Evidence of malignancy
  • ENG/EMG suggest acquired pathology

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 for the chromosome 17p11.2 duplication is strongly recommended PRIOR TO RECRUITMENT as this may not be reliably detected by WGS using current analysis techniques; other tests below should be considered where this is in line with current local practice including:

  •  PMP22 point mutations, GJB1, MPZ, MFN2 (MFN2 axonal only)

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

Synonyms:

Hereditary sensori-motor neuropathy
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