Charcot-Marie-Tooth disease (CMT)

CMT is a genetically heterogeneous group of inherited peripheral neuropathies that are characterized by progressive distal wasting and loss of reflexes in the muscles of the legs. There several types of CMT including CMT1 and CMT2.

SERVICES

Biomarkers

Genetic Biomarkers

Gene mutations on PMP22 (CMT1A, most common), GJB1 (CMTX1), P0 (CMT1B), and MFN2 (CMT2A).

Diagnostic Biomarkers

  • CMT Neuropathy Score (CMTNS)
  • CMT Examination Score (CMTES) combined with the
  • CMT Functional Outcome Measure (CMTFOM).
  • MRI assay of the proximal sciatic nerve

Our approach

is a carefully validated, clinically realistic model for early diabetes mellitus screening and managing of the disease.

 

Our mathematical & computational tools

enable researchers and decision makers to make better informed decisions.