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 the following of simplifying checklists:
The genetic classification of CMT
The distinctive features of CMT
The differentiating features of CMT
Neurochecklists has also explored individual CMT subtypes of which there are the 52 varieties. Here they are…all linked to their checklists.
CMT1: autosomal dominant demyelinating
CMT2: autosomal dominant axonal
CMT2B1 and CMT2B2: autosomal recessive axonal
CMT4: autosomal recessive demyelinating
CMT 3,5 and 6
CMT3: PMP22, MPZ, EGR2, PXN, GJB1
CMTDI: autosomal dominant intermediate
CMTRI: autosomal recessive intermediate
To explore these and many other comprehensive neurology checklists…
Go online at Neurochecklists.com
Or get the book, 700 Essential Neurology Checklists
The Neurology Lounge 