Jean-Marie Charcot, Pierre Marie, and Howard Henry Tooth will be confounded to see what has become of the disease they described hundreds of years ago. Charcot-Marie Tooth disease (CMT) was a simple and straightforward disease then, with easily recognisable features such as the ‘classic’ high arched foot (pes cavus), the hammer toes, and the inverted champagne glass appearance of the leg.
What was once a clear clinical entity has however morphed into a complex genetic maze. CMT has literally evolved into a hydra with 52 genetically distinct heads (and I thought I will never use literally in this blog). Half of this number is made up by the 26 forms of CMT type 2, which now runs from CMT2A to CMT2Z! Where to go after Z is anyones guess?
What neurologists could easily recognise and classify by distinctive clinical features now runs rings around them with complex neurophysiological cut-off points.
In tackling the increasingly complex phenomenon of CMT, Neurochecklists has attempted to demystify the disease with a variety of simple checklists such as:
The genetic classification of CMT
The distinctive features of CMT
The differentiating features of CMT
The investigations of CMT
The management of CMT
Or you may wish to dive in properly and explore individual CMT subtypes. In which case, here are the 52 varieties of CMT and their genetic mutations, all linked to their checklists. Watch out for SPG11!
CMT1: Autosomal dominant demyelinating
CMT2: Autosomal dominant axonal
CMT2G (old term for CMT2P)
CMT2K: GDAP1 and JPH1
CMT2B1 and CMT2B2: Autosomal recessive axonal
CMT4: Autosomal recessive demyelinating
CMT4E: MPZ and EGR2
CMT3,5 and 6
CMT3: PMP22, MPZ, EGR2, PXN, GJB1
CMTX2: mutation unknown
CMTDI: Autosomal dominant intermediate
CMTDIA: mutation unknown
CMTRI: Autosomal recessive intermediate
Explore these and more on Neurochecklists