Episode 2: What's in A Name?

Original Publish Date

February 4, 2021

Episode Description

With CMT being inheritable, there are four ways that CMT can be inherited. These four ways are called the inheritance patterns. The inheritance patterns are confusing. The genetic mutations that cause CMT are confusing. There are so many types, each confusingly caused by a different confusing gene mutation. CMT is as confusing as it gets. For all the confusing variability of CMT, there's only a couple of things that don't change—there’s always an exception to the rule and CMT is inherently confusing. Amid all this confusion, there is an easy-to-follow method for keeping track of all the confusion. Episode 2: What’s in A Name explains all of the nuances, explains how everything is organized, and breaks down the CMT naming history into an easy to follow narrative.

Episode 2: What's in A Name?

Show Notes

In this episode, we discuss the various names of CMT, the current six categories of CMT, and how all the many types of CMT are organized into the categories. We discussed many of the acronyms that doctors use to describe CMT and how those acronyms/names comingle and interchange with the CMT acronyms. We discuss the confusing history of the CMT2A, 2A1, 2A2A, and 2A2B names, and we discuss the reasons behind the Type 2 subtypes with double letters, and the newer 2B1-2B5 names.

Sources

Washington University at St. Louis Neuromuscular Disease Online Catalog:
https://neuromuscular.wustl.edu/time/hmsn.html#5

Johns Hopkins Online Mendelian Inheritance in Man (OMIM) CMT Phenotype Series
https://www.omim.org/phenotypicSeries/PS162400

The Charcot-Marie-Tooth Association CMT Types Page:
https://www.cmtausa.org/understanding-cmt/types-of-cmt/

The MDA CMT Types Page:
https://www.mda.org/disease/charcot-marie-tooth/types

The Charcot-Marie-Tooth Association Patient and Family Conference Type 2 CMT Research Update Presented by Dr. Züchner
https://www.cmtausa.org/our-research/for-patients-and-families/research-updates/star-research-updates-for-axonal-forms-of-cmt/

The Inherited Neuropathies Consortium AR-CMT Listings
https://www.rarediseasesnetwork.org/cms/inc/Healthcare-Professionals/CMT

What is a Chromosome?

https://www.genome.gov/genetics-glossary/Chromosome

What is an Autosome? https://www.genome.gov/genetics-glossary/Autosome

A Gene’s Home Address:
https://medlineplus.gov/genetics/understanding/howgeneswork/genelocation/

The Cryptid Sloth Show Ep 1: It’s All In The Genes:
https://thecryptidslothshow.buzzsprout.com/1550245/7360330-ep-1-it-s-all-in-the-genes


CMT Type Categories and Associated Subtypes

CMT1:
https://www.thecryptidsloth.com/cmt1

CMT2:
https://www.thecryptidsloth.com/cmt2

CMT4:
https://www.thecryptidsloth.com/cmt4

X-Linked CMT:
https://www.thecryptidsloth.com/cmtx

Dominant Intermediate CMT:
https://www.thecryptidsloth.com/cmt-di

Recessive Intermediate CMT:
https://www.thecryptidsloth.com/cmt-ri

HNPP:
https://www.thecryptidsloth.com/cmt1/hnpp

https://www.cmtausa.org/understanding-cmt/types-of-cmt/hereditary-neuropathy-with-liability-to-pressure-palsies-hnpp/


Referenced Published Literature Establishing CMT Causes

Original Paper Identifying KIF1B As the Cause of CMT2A
https://pubmed.ncbi.nlm.nih.gov/11389829/

Paper by Züchner That Establishes MFN2 as Actual Cause of CMT2A
https://www.ncbi.nlm.nih.gov/books/NBK1511/

Paper by Cortese, Züchner, et al. That Establishes SORD as Cause of CMT
https://pubmed.ncbi.nlm.nih.gov/32367058/

Paper by Züchner, Scherer, et al. That Establishes DST as Cause of CMT
https://pubmed.ncbi.nlm.nih.gov/32802955/



Additional CMT Resources

Find Your Nearest Charcot-Marie-Tooth Association Centers of Excellence CMT Clinic:
https://www.cmtausa.org/living-with-cmt/find-help/cmta-centers-of-excellence/

The CMTA’s Ask the Expert Desk:
https://www.cmtausa.org/living-with-cmt/find-help/ask-the-expert/

The Inherited Neuropathies Consortium:
https://www.rarediseasesnetwork.org/cms/inc/

The Hereditary Neuropathy Foundation
https://www.hnf-cure.org/