Charcot-Marie-Tooth disease type 1

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Charcot-Marie-Tooth disease type 1

ORPHA:65753Clinical group

Also called Autosomal dominant demyelinating Charcot-Marie-Tooth disease · CMT1 · Charcot-Marie-Tooth neuropathy type 1 · Hereditary motor and sensory neuropathy type 1

What it is

Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.

Key facts

Prevalence
1-5 / 10 000
Age of onset
Adolescent, Adult, Childhood, Infancy
Inheritance
Autosomal dominant
Classified as
Clinical group

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes reported in subtypes

EGR2ITPR3LITAFMPZNEFLPMP22

Orphanet records these genes on 7 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

GARD 12433MONDO 0019011MONDO 19011UMLS C0751036

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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