What is the global prevalence of Charcot-Marie-Tooth (CMT) disease?

Updated: May 22, 2018
  • Author: Timothy C Parsons, MD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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CMT is the most common inherited neuromuscular disorder. Estimates of the frequency of Charcot-Marie-Tooth disease vary widely. In 1974, Skre and colleagues reported a prevalence of 1 case per 2,500 individuals. A worldwide meta-analysis estimated a prevalence of 1 per 10,000 individuals, and a prevalence of 10.8 per 100,000 was found in western Japan. [52, 53]

Charcot-Marie-Tooth disease type 1 accounts for about two thirds of CMT cases. Of these, 70% are due to duplications in PMP22. Duplications in PMP22 therefore account for roughly half of all combined CMT subtypes. [13, 54] CMT1B makes up about 5% of CMT1 and about 1.6% of all CMT cases. [54, 55]

Charcot-Marie-Tooth disease type 2 accounts for about 22% of CMT cases. [54] CMT2A (MFN2 mutation) has been estimated to account for 11-23% of all CMT2 cases. [56]

Charcot-Marie-Tooth disease type X accounts for about 16% of CMT cases. [54] CMTX1 (Cx32 mutation) accounts for most CMTX cases and may be the second most common cause of CMT overall, at 7-20%. [42, 43]

A 2016 systematic review of previously published epidemiologic Charcot-Marie-Tooth disease studies showed significant variation in the worldwide prevalence of CMT dependent on country, region, and/or ethnicity. [57]

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