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.
Gene mutations on PMP22 (CMT1A, most common), GJB1 (CMTX1), P0 (CMT1B), and MFN2 (CMT2A).
- CMT Neuropathy Score (CMTNS)
- CMT Examination Score (CMTES) combined with the
- CMT Functional Outcome Measure (CMTFOM).
- MRI assay of the proximal sciatic nerve
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