Experts in CMT is dedicated to bringing you content on a range of Charcot-Marie-Tooth disease topics. From the latest research updates, to raising awareness for this rare disease, to what life is like living with CMT, and everything in between, our goal, through education and awareness, is to improve the lives of those who are living with CMT. What is this thing we call, “CMT,” though?  

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CMT is an acronym for Charcot-Marie-Tooth disease. So named for the three physicians who first described it, Jean-Martin Charcot (1825-1893), Pierre Marie (1853-1940), and Howard Henry Tooth (1856-1925), CMT is, at its core definition, a genetic polyneuropathy of the Peripheral Nervous System. For conversation purposes, CMT is typically referred to as a genetic neuromuscular disease. CMT is understood to affect 1:2500 people, or about 0.04% of the population. Because CMT is caused by a gene mutation, CMT is inheritable.

 

CMT is the world’s most commonly inherited neuromuscular disease. How CMT is inherited and the chances of inheriting CMT are both determined by the specific genetic mutation. To date, scientists have discovered 131 genes that have CMT-causing mutations, plus an addition four chromosomal locations suspected of having a CMT-causing mutation but the exact mutation hasn’t yet been identified. Together, these identified genetic mutations account for 165 individual CMT subtypes. CMT can affect everybody differently, and even within the same family. To date, there are no known treatments and there is no known cure.

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The Resources page provides links to additional resources and information, including to the Charcot-Marie-Tooth association. The Basics of CMT Subtypes page provides a general description of the 13 Type categories into which CMT subtypes are classified, plus a group of "unclassified" subtypes. The What Is CMT? page provides a general overview of what CMT is, how it’s diagnosed, and how it’s managed. The Blog page is, of course, where the Experts in CMT blog lives, and there’s even a Common Words and Phrases page where words and phrases that commonly appear within CMT discussions are explained and defined, so that you don’t have to scour to look-up the lingo. The Experts in CMT publicly searchable CMT genetics database is the only publicly available resource that includes all discovered-to-date CMT-associated genes and a complete catalog of their related subtypes.​

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