Charcot Marie Tooth Disease Types and Subtypes

For an in-depth detailed explanation of how the types and subtypes of CMT are classified and named, click here.

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Note: The names and classifications are subject to change at any time. The classifications and subtypes given on this page are provided for informational purposes only. Every effort is made to provide the most up to date information. However, new discoveries are made constantly, and these discoveries may cause a change in how the CMT Types and subtypes are classified. The information provided on this page is not intended to diagnose any medical condition you may have and should not be construed as medical advice.

Charcot Marie Tooth Disease Type 1 | CMT1

Each Type 1 subtype is understood to be demyelinating, and to be autosomal dominant in inheritance.

 

*CMT1F is understood to be either dominant or recessive in inheritance. CMT1F is sometimes expressed as 1F/2E (or 2E/1F, depending on author), because CMT1F and CMT2E are understood to be caused by a mutation of the same gene (different mutations, same gene).

 

Charcot Marie Tooth Disease Type 2 | CMT2

Each Type 2 subtype is understood to be axon-related, and to be autosomal dominant in inheritance.

*Denotes subtypes that, although they are classified with the dominant Type 2's, are understood to be recessive in inheritance.

**Denotes subtypes that, although they are classified with the dominant Type 2's, are understood to be either dominant or recessive in inheritance.

 

Charcot Marie Tooth Disease Type 4 | CMT4

Each Type 4 subtype is understood to be autosomal recessive in inheritance, and can be demyelinating or axon-related.

CMT4A, CMT4B1, CMT4B2, CMT4B3, CMT4C, CMT4D, CMT4E, CMT4F, CMT4G, CMT4H, and CMT4K are each understood to be a demyelinating subtype. CMT4J is understood to be both a demyelinating and an axon-related subtype.

 

Charcot Marie Tooth Disease X-Linked | CMTX

Each X-Linked subtype is understood to have its responsible gene located on an X-Chromosome, each is understood to be either dominant or recessive in inheritance, and each is understood to be demyelinating or axon-related.

CMTX1 and CMTX6 are each understood to be X-Linked dominant in inheritance. CMTX2, CMTX3, CMTX4, and CMTX5 are each understood to be X-Linked recessive in inheritance.

 

Charcot Marie Tooth Disease Dominant Intermediate | CMTDI

Each Dominant Intermediate subtype is understood to exhibit nerve conduction characteristics that overlap that which is seen in the demyelinating subtypes and that which is seen in the axon-related subtypes; and each are understood to be autosomal dominant in inheritance.

 

Charcot Marie Tooth Disease Recessive Intermediate | CMTRI

Each Recessive Intermediate subtype is understood to exhibit nerve conduction characteristics that overlap that which is seen in the demyelinating subtypes and that which is seen in the axon-related subtypes; and each are understood to be autosomal recessive in inheritance.

CMTRIA

CMTRIC